Only 10% of patients with pituitary deficiencies have an identified genetic etiology, while the treatment of neuroendocrine tumors (NET) remains highly challenging.

The branch of medicine concerned with the interactions between nervous and endocrine systems is called neuroendocrinology. These act together to regulate many physiologic processes of the human body. The neuroendocrine system includes endocrine glands such as the pituitary and adrenal glands as well as endocrine islets within glandular tissues (e.g. pancreatic tissue) and cells dispersed between exocrine cells, such as endocrine cells of the digestive tract.

All neuroendocrine cells share a number of distinctive neuronal characteristics, such as dense core secretion granules containing peptides, biogenic amines and some antigens in common with nerves. Hormone release from neuroendocrine cells is a highly regulated process that requires adjustments to maintain internal equilibrium throughout life of key functions in humans such as growth, reproduction, lactation, response to stress and metabolism.

Cell proliferation and differentiation into hormone-secreting neuroendocrine phenotypes are tightly regulated by hypothalamic factors, hormones, growth factors, transcription factors etc. Defects in such regulation at any life stage, from embryogenesis to old age, leads to hormonal deficiencies or hypersecretion inducing opposing pathologies, like the canonical examples of dwarfism and gigantism.

History of the team

DIP-NET (Differentiation and Proliferation of Neuroendocrine Tissues) was created in 2017 by the merger of two former research teams of the now-defunct CRN2M (CNRS UMR 7286) with a shared interest in neuroendocrinology. Prof. Thierry Brue's group studied the “role of transcription factors in pituitary pathophysiology,” and Prof. Anne Barlier's group focused on “signaling in neuroendocrine tumours”. These teams had also been working for a number of years in collaboration within the AP-HM hospital system through Prof. Brue's coordination of the nationally accredited Reference Center for Rare Pituitary Diseases "DEFHY", now HYPO. In 2021, with convergent interests in basic pathophysiological mechanisms, they were joined by Dr. Heather Etchevers and her group in the MMG department. Together, they are exploring the effects of changes in shared signaling and transcriptional pathways mediating communication both within and between the diverse cell types of neuroendocrine organs, particularly the pituitary gland.

Approaches and aims

Our main objectives are to identify and understand the roles of key elements (from receptors to transcription factors) involved in the mechanisms of differentiation and proliferation of neuroendocrine cells. Elucidating the physiological influences of molecular pathways and their abnormalities that can cause hormone deficiencies, neuroendocrine hypersecretion or proliferative syndromes are helping our team develop new therapeutic strategies for these disorders.

To increase the rate of identification of genetic causes, we have developed high-throughput genomic analyses, from gene panels using high-throughput sequencing to comparative hybridization (CGH) and whole-exome studies. These strategies are used for both pituitary deficiencies (the international GenHypoPit network) and hereditary NETs (TENGEN network), in collaboration with the AP-HM Molecular Biology Laboratory, directed by Prof. Barlier.

These large-scale genomic technologies are allowing us to identify new genomic abnormalities. However, pathologies of the neuroendocrine system are rare diseases and relevant cellular models are lacking. Human cells are poorly accessible while murine models display a number of discrepancies with human neuroendocrine physiology and pathology. In specific contexts, they are used in our group to trace and study specific effects of signaling pathway activation on neuroendocrine differentiation and proliferation in vivo. However, a major experimental strategy underway is the validation of human organoid models from induced pluripotent stem cells(iPS) differentiated into neuroendocrine cell types of interest, such as specific pituitary cells.

Endocrinology is a field of medicine where therapies can be provided by hormonal replacement or inhibitors of their secretion. However, current hormonal therapies poorly mimic physiological secretion in general, resulting in altered quality of life. To progress in the treatment of NET (neuroendocrine tumors), we conducthigh-throughput proteomics analysesto decipher signaling modules involved in therapeutic resistance. These proteomic data are integrated into mathematical models to identify important signalling modules for NET biology (in collaboration with the group of Dr. A. Baudot). In parallel, we continue our drug screening strategy in collaboration with pharmacological companies on human primary cultures of tumors provided by neurosurgery (Prof. H. Dufour) and neuropathology (Prof. D. Figarella-Branger) departments of the AP-HM.

We have thus established favorable conditions to delineate molecular mechanisms leading to human pituitary deficiencies and tumors and to test new therapeutic strategies for such diseases. The availability of a unique collection of genomic DNA samples and neuroendocrine tumors with well characterized phenotypes, our genomic databases, clinical expertise in pituitary diseases and their treatments, newly reinforced expertise in experimental developmental biology and our longstanding national and international collaborations in the field of rare diseases are major strengths of our projects.

Team publications

Soghomonian, A.  et al. 2022

Letter to the Editor from Soghomonian et al.: "Epicardial and Pericardial Adiposity Without Myocardial Steatosis in Cushing Syndrome".


J Clin Endocrinol Metab - issue: 1 - volume: 107 - pages: e434-e435.

Brue, T.  et al. 2021

Cost-Utility of Acromegaly Pharmacological Treatments in a French Context.

OBJECTIVE: Efficacy of pharmacological treatments for acromegaly has been assessed in many clinical or real-world studies but no study was interested in economics evaluation of these treatments in...
Front Endocrinol (Lausanne) - issue: - volume: 12 - pages: 745843.

Etchevers, HC.  et al. 2021

Pericyte Ontogeny: The Use of Chimeras to Track a Cell Lineage of Diverse Germ Line Origins.

The goal of lineage tracing is to understand body formation over time by discovering which cells are the progeny of a specific, identified, ancestral progenitor. Subsidiary questions include...
Methods Mol Biol - issue: - volume: 2235 - pages: 61-87.

Molines, E.  et al. 2021

[BRAF mutation evolution in melanoma: Myth or reality?].

Knowledge of the BRAF mutational status has become essential for melanoma therapeutic management. B-Raf inhibitors are associated with significant overall survival in patients with BRAFV600-mutated...
Ann Pathol - issue: - volume: - pages: .

Amodru, V.  et al. 2021

Synergistic cortisol suppression by ketoconazole-osilodrostat combination therapy.

SUMMARY: Here, we describe a case of a patient presenting with adrenocorticotrophic hormone-independent Cushing's syndrome in a context of primary bilateral macronodular adrenocortical hyperplasia....
Endocrinol Diabetes Metab Case Rep - issue: - volume: 2021 - pages: .

Fleseriu, M.  et al. 2021

Consensus on diagnosis and management of Cushing's disease: a guideline update.

Cushing's disease requires accurate diagnosis, careful treatment selection, and long-term management to optimise patient outcomes. The Pituitary Society convened a consensus workshop comprising more...
Lancet Diabetes Endocrinol - issue: 12 - volume: 9 - pages: 847-875.

Barraud, S.  et al. 2021

Pegvisomant treatment in acromegaly in clinical practice: Final results of the French ACROSTUDY (312 patients).

OBJECTIVE: We report the final analysis of the French ACROSTUDY, using data revised and enriched since the 2013 interim analysis. Our objective was to validate the use of pegvisomant (PEGV) in the...
Ann Endocrinol (Paris) - issue: 6 - volume: 82 - pages: 582-589.

Castinetti, F.  et al. 2021

Lack of delayed neurocognitive side effects of Gamma Knife radiosurgery in acromegaly: the Later-Ac study.

INTRODUCTION: Persistent growth hormone hypersecretion can be observed in roughly 50% of patients operated for somatotroph adenomas, requiring additional treatments. Despite its proven antisecretory...
Eur J Endocrinol - issue: 1 - volume: 186 - pages: 37-44.

Le Bras, M.  et al. 2021

Pituitary adenoma in patients with multiple endocrine neoplasia type 1: a cohort study.

OBJECTIVE: Pituitary adenoma (PA) is one of the three major components of multiple endocrine neoplasia type 1 (MEN1). Recent studies have suggested that MEN1-associated PAs are less aggressive than...
Eur J Endocrinol - issue: 6 - volume: 185 - pages: 863-873.

Brue, T.  et al. 2021

Novel mechanism of pituitary hormone deficiency: genetic variants shift splicing to produce a dominant negative transcription factor isoform.

Recent studies have shown a novel mechanism of combined pituitary hormone deficiency associated with mutations in POU1F1, altering the balance of alternative-splicing, which results in...
Eur J Endocrinol - issue: 6 - volume: 185 - pages: C19-C25.

Raverot, G.  et al. 2021

Aggressive pituitary tumours and pituitary carcinomas.

Although usually benign, anterior pituitary tumours occasionally exhibit aggressive behaviour, with invasion of surrounding tissues, rapid growth, resistance to conventional treatments and multiple...
Nat Rev Endocrinol - issue: 11 - volume: 17 - pages: 671-684.

Kervarrec, T.  et al. 2021

Reply to: Expanding the Spectrum of Primary Cutaneous Carcinoma With BRD3-NUTM1 Fusion.


Am J Surg Pathol - issue: 11 - volume: 45 - pages: 1584-1586.

Graillon, T.  et al. 2021

Meningiomas in patients with long-term exposition to progestins: Characteristics and outcome.

OBJECTIVE: The aim of this study was to describe progestin-associated meningiomas' characteristics, outcome and management. MATERIAL AND METHODS: We included 53 patients operated on and/or followed...
Neurochirurgie - issue: 6 - volume: 67 - pages: 556-563.

Fledderus, AC.  et al. 2021

Domains and outcomes of the core outcome set of congenital melanocytic naevi for clinical practice and research (the OCOMEN project): part 2.

BACKGROUND: Congenital melanocytic naevi (CMN) can have a great impact on patients' lives owing to perceived stigmatization, and the risk of melanoma development and neurological complications....
Br J Dermatol - issue: 5 - volume: 185 - pages: 970-977.

Lasbleiz, A.  et al. 2021

Familial hypocalciuric hypercalcemia: the challenge of diagnosis.


Endocrine - issue: - volume: - pages: .

Fourneaux, R.  et al. 2021

Acromegaly in remission: a view from the partner.

OBJECTIVE: A relative can be an asset in dealing with chronic illnesses, such as acromegaly, where quality of life (QoL) is altered even after remission. However, it has been shown that quality of...
Eur J Endocrinol - issue: 6 - volume: 185 - pages: K21-K25.

d'Artigues, J.  et al. 2021

Fully endoscopic endonasal approach for the treatment of intrasellar arachnoid cysts.

PURPOSE: To report our experience of endoscopic endonasal obliteration of symptomatic sellar arachnoid cyst (SAC). METHODS: From 2002 to 2019, we retrospectively reported the data of 17 cases of SAC...
Pituitary - issue: - volume: - pages: .

Maraninchi, M.  et al. 2021

Role of growth hormone in hepatic and intestinal triglyceride-rich lipoprotein metabolism.

BACKGROUND: Elevated plasma concentrations of hepatic- and intestinally-derived triglyceride-rich lipoproteins (TRL) are implicated in the pathogenesis of atherosclerotic cardiovascular disease and...
J Clin Lipidol - issue: 5 - volume: 15 - pages: 712-723.

Kervarrec, T.  et al. 2021

Reevaluation of GLI1 Expression in Skin Tumors.


Am J Dermatopathol - issue: 10 - volume: 43 - pages: 759-761.

Haniffa, M.  et al. 2021

A roadmap for the Human Developmental Cell Atlas.

The Human Developmental Cell Atlas (HDCA) initiative, which is part of the Human Cell Atlas, aims to create a comprehensive reference map of cells during development. This will be critical to...
Nature - issue: 7875 - volume: 597 - pages: 196-205.

Macagno, N.  et al. 2021

NUT Is a Specific Immunohistochemical Marker for the Diagnosis of YAP1-NUTM1-rearranged Cutaneous Poroid Neoplasms.

YAP1-NUTM1 fusion transcripts have been recently reported in poroma and porocarcinoma. NUTM1 translocation can be screened by nuclear protein in testis (NUT) immunohistochemistry in various...
Am J Surg Pathol - issue: 9 - volume: 45 - pages: 1221-1227.

Ben Aim, L.  et al. 2021

International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma.

BACKGROUND: SDHB is one of the major genes predisposing to paraganglioma/pheochromocytoma (PPGL). Identifying pathogenic SDHB variants in patients with PPGL is essential to the management of patients...
J Med Genet - issue: - volume: - pages: .

Fleseriu, M.  et al. 2021

More than a decade of real-world experience of pegvisomant for acromegaly: ACROSTUDY.

OBJECTIVE: To report the final long-term safety and efficacy analyses of patients with acromegaly treated with pegvisomant from the ACROSTUDY. DESIGN: Global (15 countries), multicentre,...
Eur J Endocrinol - issue: 4 - volume: 185 - pages: 525-538.

Moog, S.  et al. 2021

Recurrence-Free Survival Analysis in Locally Advanced Pheochromocytoma: First Appraisal.

CONTEXT: The behavior of locally advanced pheochromocytoma (LAP) remains unknown. OBJECTIVE: We characterized the population with LAP and recurrence-free survival (RFS). METHODS: This retrospective...
J Clin Endocrinol Metab - issue: 9 - volume: 106 - pages: 2726-2737.

Gergics, P.  et al. 2021

High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency.

Pituitary hormone deficiency occurs in ∼1:4,000 live births. Approximately 3% of the cases are due to mutations in the alpha isoform of POU1F1, a pituitary-specific transcriptional activator....
Am J Hum Genet - issue: 8 - volume: 108 - pages: 1526-1539.

de la Fouchardi, .  et al. 2021

Cutaneous Melanomas Arising during Childhood: An Overview of the Main Entities.

Cutaneous melanomas are exceptional in children and represent a variety of clinical situations, each with a different prognosis. In congenital nevi, the risk of transformation is correlated with the...
Dermatopathology (Basel) - issue: 3 - volume: 8 - pages: 301-314.

Malissen, N.  et al. 2021

Surgery of small bowel melanoma metastases in the era of efficient medical therapies: a retrospective cohort study.

Surgery of small bowel melanoma metastases has to be reconsidered in the era of targeted treatments and immunotherapy. To retrospectively assess context and outcomes of small bowel melanoma...
Melanoma Res - issue: 4 - volume: 31 - pages: 358-365.

Oei, W.  et al. 2021

Development of an international core domain set for medium, large and giant congenital melanocytic naevi as a first step towards a core outcome set for clinical practice and research.

BACKGROUND: Medium, large and giant congenital melanocytic naevi (CMN) can impose a psychosocial burden on patients and families, and are associated with increased risk of developing melanoma or...
Br J Dermatol - issue: 2 - volume: 185 - pages: 371-379.

Gaudy-Marqueste, C.  et al. 2021

Molecular characterization of fast-growing melanomas.

BACKGROUND: The rate of growth of primary melanoma is a robust predictor of aggressiveness, but the mutational profile of fast-growing melanomas (FGMM) and the potential to stratify patients at high...
J Am Acad Dermatol - issue: - volume: - pages: .

Romanet, P.  et al. 2021

Somatotroph Tumors and the Epigenetic Status of the GNAS Locus.

Forty percent of somatotroph tumors harbor recurrent activating GNAS mutations, historically called the gsp oncogene. In gsp-negative somatotroph tumors, GNAS expression itself is highly variable;...
Int J Mol Sci - issue: 14 - volume: 22 - pages: .

Castinetti, F.  et al. 2021

Osilodrostat in Cushing's disease: The risk of delayed adrenal insufficiency should be carefully monitored.

Antisecretory data shows a highly effective and prolonged blockade of cortisol secretion with osilodrostat. The drawback is the occurrence of adrenal insufficiency (AI) in roughly a quarter of...
Clin Endocrinol (Oxf) - issue: - volume: - pages: .

Graillon, T.  et al. 2021

Role of 3D volume growth rate for drug activity evaluation in meningioma clinical trials: the example of the CEVOREM study.

BACKGROUND: We aimed to improve the assessment of the drug activity in meningioma clinical trials based on the study of the 3D volume growth rate (3DVGR) in a series of aggressive meningiomas. We...
Neuro Oncol - issue: 7 - volume: 23 - pages: 1139-1147.

Castinetti, F.  et al. 2021

Approach to the Patient Treated with Steroidogenesis Inhibitors.

Steroidogenesis inhibitors can be given to control the hypercortisolism of Cushing's syndrome in various situations: when surgery has been unsuccessful or not possible; in metastatic...
J Clin Endocrinol Metab - issue: 7 - volume: 106 - pages: 2114-2123.

Cuny, T.  et al. 2021

Characterization of the ability of a, second-generation SST-DA chimeric molecule, TBR-065, to suppress GH secretion from human GH-secreting adenoma cells.

CONTEXT: Somatostatin (SST) and dopamine (DA) inhibit growth hormone (GH) secretion and proliferation of GH-secreting pituitary adenomas (GHomas) through binding to SSTR2 and D2R receptors. Chimeric...
Pituitary - issue: 3 - volume: 24 - pages: 351-358.

Eydoux, R.  et al. 2021

Women's perceptions of femininity after craniopharyngioma: a qualitative study.

BACKGROUND: Previous quantitative studies have shown a reduced quality of life in patients treated for craniopharyngioma (CP). However, few have assessed their sexual quality of life and other issues...
Clin Endocrinol (Oxf) - issue: 5 - volume: 94 - pages: 880-887.

Ho, K.  et al. 2021

Pituitary Neoplasm Nomenclature Workshop: Does Adenoma Stand the Test of Time?

The WHO Classification of Endocrine Tumours designates pituitary neoplasms as adenomas. A proposed nomenclature change to pituitary neuroendocrine tumors (PitNETs) has been met with concern by some...
J Endocr Soc - issue: 3 - volume: 5 - pages: bvaa205.

Hochman, C.  et al. 2021

Pre-term birth in women exposed to Cushing's disease: the baby-cush study.

DESIGN: Hypercortisolism during pregnancy is a risk factor for prematurity. Long-term exposure to hypercortisolism may lead to permanent comorbidities, such as hypertension or diabetes, even after...
Eur J Endocrinol - issue: 3 - volume: 184 - pages: 469-476.

Reincke, M.  et al. 2021

Corticotroph tumor progression after bilateral adrenalectomy (Nelson's syndrome): systematic review and expert consensus recommendations.

BACKGROUND: Corticotroph tumor progression (CTP) leading to Nelson's syndrome (NS) is a severe and difficult-to-treat complication subsequent to bilateral adrenalectomy (BADX) for Cushing's disease....
Eur J Endocrinol - issue: 3 - volume: 184 - pages: P1-P16.

Castinetti, F.  et al. 2021

The risks of medical treatment of prolactinoma.

First-line treatment of prolactinoma is usually medical, based on dopamine agonists receptors, mainly cabergoline. The classical side-effects of cabergoline (low blood pressure and nausea) have been...
Ann Endocrinol (Paris) - issue: 1 - volume: 82 - pages: 15-19.

Amodru, V.  et al. 2021

Medical management of adrenocortical carcinoma: Current recommendations, new therapeutic options and future perspectives.

Adrenocortical carcinoma is a rare malignant tumor of poor prognosis, frequently requiring additional treatments after initial surgery. Due to its adrenolytic action, mitotane has become the...
Ann Endocrinol (Paris) - issue: 1 - volume: 82 - pages: 52-58.

Castinetti, F.  et al. 2021

Positron Emission Tomography Imaging in Medullary Thyroid Carcinoma: Time for Reappraisal?

Medullary thyroid carcinomas (MTC) are rare neoplasms derived from calcitonin-secreting cells of the thyroid. They can occur sporadically or as part of the multiple endocrine neoplasia type 2...
Thyroid - issue: 2 - volume: 31 - pages: 151-155.

Jullien, N.  et al. 2021

Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort.

CONTEXT: The international GENHYPOPIT network collects phenotypical data and screens genetic causes of non-acquired hypopituitarism. AIMS: To describe main phenotype patterns and their evolution...
Clin Endocrinol (Oxf) - issue: 2 - volume: 94 - pages: 277-289.

Salgues, B.  et al. 2021

Risk stratification of adrenal masses by [(18) F]FDG PET/CT: Changing tactics.

CONTEXT: [(18) F]FDG PET/CT improves adrenal tumour characterization. However, there is still no consensus regarding the optimal imaging biomarkers of malignancy. OBJECTIVES: To assess the...
Clin Endocrinol (Oxf) - issue: 2 - volume: 94 - pages: 133-140.

Buisset, C.  et al. 2021

Pheochromocytoma surgery without systematic preoperative pharmacological preparation: insights from a referral tertiary center experience.

BACKGROUND: Despite significant advances in imaging and genetics, as well as surgical and anesthetic innovations, morbidity in pheochromocytoma surgery remains significant. The aim of this study was...
Surg Endosc - issue: 2 - volume: 35 - pages: 728-735.

Kuhn, E.  et al. 2021

Correction to: Pegvisomant in combination or pegvisomant alone after failure of somatostatin analogs in acromegaly patients: an observational French ACROSTUDY cohort study.


Endocrine - issue: 1 - volume: 71 - pages: 265.

Gerard, C.  et al. 2021

Kinome rewiring during acquired drug resistance in neuroendocrine neoplasms.

Although there is evidence of a significant rise of neuroendocrine neoplasms (NENs) incidence, current treatments are largely insufficient due to somewhat poor knowledge of these tumours. Despite...
Endocr Relat Cancer - issue: 1 - volume: 28 - pages: 39-51.

Illouz, F.  et al. 2021

Somatostatin receptor ligands induce TSH deficiency in thyrotropin-secreting pituitary adenoma.

OBJECTIVE: Somatostatin receptor ligands (SRL) are useful to control central hyperthyroidism in patients with thyrotropin-secreting pituitary adenoma (TSH pituitary adenoma). The aim of this study...
Eur J Endocrinol - issue: 1 - volume: 184 - pages: 1-8.

Kuhn, E.  et al. 2021

Pegvisomant in combination or pegvisomant alone after failure of somatostatin analogs in acromegaly patients: an observational French ACROSTUDY cohort study.

OBJECTIVE: After surgery, when somatostatin analogs (SAs) do not normalise IGF-I, pegvisomant (PEG) is indicated. Our aim was to define the medical reasons for the treatment of patients with PEG as...
Endocrine - issue: 1 - volume: 71 - pages: 158-167.

Graillon, T.  et al. 2020

Parasellar Meningiomas.

Parasellar spaces remain particularly singular, comprising the most important neurovascular structures such as the internal carotid artery and optic, oculomotor, and trigeminal nerves. Meningiomas...
Neuroendocrinology - issue: 9-10 - volume: 110 - pages: 780-796.

Castets, S.  et al. 2020

Hypopituitarism in Patients with Blepharophimosis and FOXL2 Mutations.

BACKGROUND: FOXL2 is the gene involved in blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). There have been few single case reports of growth hormone deficiency (GHD) with this...
Horm Res Paediatr - issue: 1 - volume: 93 - pages: 30-39.

Gadelha, M.  et al. 2020

Risk factors and management of pasireotide-associated hyperglycemia in acromegaly.

Pasireotide, a multireceptor-targeted somatostatin analog with highest affinity for somatostatin receptor subtype (SST) 5, has demonstrated superior efficacy over the SST2-preferential somatostatin...
Endocr Connect - issue: 12 - volume: 9 - pages: 1178-1190.

Martel-Duguech, LM.  et al. 2020

ESE audit on management of Adult Growth Hormone Deficiency in clinical practice.

Guidelines recommend adults with pituitary disease in whom GH therapy is contemplated, to be tested for GH deficiency (AGHD); however, clinical practice is not uniform. AIMS: 1) To record current...
Eur J Endocrinol - issue: - volume: - pages: .

Albarel, F.  et al. 2020

Evaluation of an individualized education program in pituitary diseases: a pilot study.

INTRODUCTION: The low prevalence of pituitary diseases makes patient autonomy crucial, and self-management programs should be more common. OBJECTIVES: To assess the efficacy of an education program...
Eur J Endocrinol - issue: 6 - volume: 183 - pages: 551-559.

Graillon, T.  et al. 2020

Brief CommunicationCirculating tumor DNA is present in the most aggressive meningiomas.


Neurooncol Adv - issue: 1 - volume: 2 - pages: vdaa068.

Buffet, A.  et al. 2020

Germline mutations in the new E1' cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma.

BACKGROUNDS: The incidence of germline mutations in the newly discovered cryptic exon (E1') of VHL gene in patients with von Hippel-Lindau (VHL) disease and in patients with paraganglioma or...
J Med Genet - issue: 11 - volume: 57 - pages: 752-759.

Macagno, N.  et al. 2020

Cutaneous Melanocytic Tumors With Concomitant NRASQ61R and IDH1R132C Mutations: A Report of 6 Cases.

We report a series of 6 melanocytic proliferations harboring both NRAS and IDH1 hotspot mutations. Clinically, there was no specific sex-ratio, ages ranged from 18 to 85 years, and the trunk and...
Am J Surg Pathol - issue: 10 - volume: 44 - pages: 1398-1405.

Mougel, G.  et al. 2020

Germinal defects of SDHx genes in patients with isolated pituitary adenoma.

BACKGROUND: The '3PAs' syndrome, associating pituitary adenoma (PA) and pheochromocytoma/paraganglioma (PPGL), is sometimes associated with mutations in PPGL-predisposing genes, such as SDHx or MAX....
Eur J Endocrinol - issue: 4 - volume: 183 - pages: 369-379.

Amodru, V.  et al. 2020

Discordant biological parameters of remission in acromegaly do not increase the risk of hypertension or diabetes: a study with the Liege Acromegaly Survey database.

PURPOSE: Acromegaly is a rare disease due to growth hormone (GH)-secreting pituitary adenoma. GH and IGF-1 levels are usually congruent, indicating either remission or active disease; however, a...
Endocrine - issue: 1 - volume: 70 - pages: 134-142.

Coopmans, EC.  et al. 2020

Multivariable Prediction Model for Biochemical Response to First-Generation Somatostatin Receptor Ligands in Acromegaly.

CONTEXT: First-generation somatostatin receptor ligands (fg-SRLs) represent the mainstay of medical therapy for acromegaly, but they provide biochemical control of disease in only a subset of...
J Clin Endocrinol Metab - issue: 9 - volume: 105 - pages: .

Amodru, V.  et al. 2020

Correction to: MEN2-related pheochromocytoma: current state of knowledge, specific characteristics in MEN2B, and perspectives.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Endocrine - issue: 3 - volume: 69 - pages: 695.

Amodru, V.  et al. 2020

MEN2-related pheochromocytoma: current state of knowledge, specific characteristics in MEN2B, and perspectives.

Multiple endocrine neoplasia type 2 (MEN2) is a rare hereditary syndrome due to mutations of the proto-oncogene REarranged during Transfection (RET), defined by the association of medullary thyroid...
Endocrine - issue: 3 - volume: 69 - pages: 496-503.

R, .  et al. 2020

Commentary: The Impact of Insulin-Like Growth Factor Index and Biologically Effective Dose on Outcomes After Stereotactic Radiosurgery for Acromegaly: Cohort Study.


Neurosurgery - issue: 3 - volume: 87 - pages: E301-E302.

Mouly, C.  et al. 2020

Clinical characteristics of familial hypocalciuric hypercalcaemia type 1: A multicentre study of 77 adult patients.

OBJECTIVE: Familial hypocalciuric hypercalcaemia type 1 (FHH1), related to heterozygous loss-of-function mutations of the calcium-sensing receptor gene, is the main differential diagnosis for primary...
Clin Endocrinol (Oxf) - issue: 3 - volume: 93 - pages: 248-260.

Castinetti, F.  et al. 2020

Adrenal Crisis May Occur Even In Patients With Asymptomatic Covid-19.


Endocr Pract - issue: 8 - volume: 26 - pages: 929-930.

Lenders, JWM.  et al. 2020

Genetics, diagnosis, management and future directions of research of phaeochromocytoma and paraganglioma: a position statement and consensus of the Working Group on Endocrine Hypertension of the European Society of Hypertension.

: Phaeochromocytoma and paraganglioma (PPGL) are chromaffin cell tumours that require timely diagnosis because of their potentially serious cardiovascular and sometimes life- threatening sequelae....
J Hypertens - issue: 8 - volume: 38 - pages: 1443-1456.

Amodru, V.  et al. 2020

Correction to: MEN2-related pheochromocytoma: current state of knowledge, specific characteristics in MEN2B, and perspectives.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Endocrine - issue: - volume: - pages: .

Eggermann, T.  et al. 2020

Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN).

BACKGROUND: With the development of molecular high-throughput assays (i.e. next generation sequencing), the knowledge on the contribution of genetic and epigenetic alterations to the etiology of...
Orphanet J Rare Dis - issue: 1 - volume: 15 - pages: 144.

Larsen, LV.  et al. 2020

Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study.

OBJECTIVE: Multiple endocrine neoplasia type 2A (MEN 2A) is a rare syndrome caused by RET germline mutations and has been associated with primary hyperparathyroidism (PHPT) in up to 30% of cases....
Endocr Connect - issue: 6 - volume: 9 - pages: 489-497.

Colao, A.  et al. 2020

Pasireotide for acromegaly: long-term outcomes from an extension to the Phase III PAOLA study.

OBJECTIVE: In the Phase III PAOLA study (clinicaltrials.gov: NCT01137682), enrolled patients had uncontrolled acromegaly despite ≥6 months of octreotide/lanreotide treatment before study start....
Eur J Endocrinol - issue: 6 - volume: 182 - pages: 583.

Castinetti, F.  et al. 2020

Radiation techniques in aggressive pituitary tumours and carcinomas.

Defining the role of radiation techniques in treatment of aggressive pituitary tumours and carcinomas is a difficult task: indeed, studies reported in the literature on this topic can probably be...
Rev Endocr Metab Disord - issue: 2 - volume: 21 - pages: 287-292.

de Tersant, M.  et al. 2020

Pheochromocytoma and Paraganglioma in Children and Adolescents: Experience of the French Society of Pediatric Oncology (SFCE).

PURPOSE: The purpose of this work is to assess the clinical outcome of pediatric patients diagnosed with pheochromocytoma and paraganglioma (PPGL) detected in France since 2000. METHODS: A...
J Endocr Soc - issue: 5 - volume: 4 - pages: bvaa039.

Cambos, S.  et al. 2020

Persistent cortisol response to desmopressin predicts recurrence of Cushing's disease in patients with post-operative corticotropic insufficiency.

OBJECTIVE: Cushing's disease (CD) may recur despite corticotropic insufficiency (COI) following pituitary surgery. The predictive value of the desmopressin test (DT) for recurrence in this setting...
Eur J Endocrinol - issue: 5 - volume: 182 - pages: 489-498.

Lojou, M.  et al. 2020

IgG4 hypophysitis: Diagnosis and management.

IgG4-related hypophysitis is a rare disease, due to a lymphoplasmocytic IgG4 positive infiltration of the pituitary. Literature data are scarce, even though the description of cases has drastically...
Presse Med - issue: 1 - volume: 49 - pages: 104016.

Lucia, K.  et al. 2020

Hypoxia and the hypoxia inducible factor 1α activate protein kinase A by repressing RII beta subunit transcription.

Overactivation of the cAMP signal transduction pathway plays a central role in the pathogenesis of endocrine tumors. Genetic aberrations leading to increased intracellular cAMP or directly affecting...
Oncogene - issue: 16 - volume: 39 - pages: 3367-3380.

Graillon, T.  et al. 2020

Surgical indications for pituitary tumors during pregnancy: a literature review.

PURPOSE: Surgical indications for pituitary tumors during pregnancy are rare, and are derived from a balance between expected benefits, particularly for maternal benefits, and anesthetic/surgical...
Pituitary - issue: 2 - volume: 23 - pages: 189-199.

Graillon, T.  et al. 2020

Fluctuation analysis of postoperative secretory status in patients operated for acromegaly.

OBJECTIVE: The aim of this study was to describe endocrinological outcome in patients operated on for acromegaly. METHODS: A retrospective study included 167 patients. Patients were assessed in the...
Ann Endocrinol (Paris) - issue: 1 - volume: 81 - pages: 11-17.

Jullien, M.  et al. 2020

Comparison of 68Ga-Dotatate PET/CT and 18F-FDOPA PET/CT for the diagnosis of pancreatic neuroendocrine tumors in a MEN1 patient.

CONTEXT: Pancreatic neuroendocrine tumors (PNETs) occur in more than 80% of patients with multiple endocrine neoplasia type 1 (MEN1) syndrome, with predominance of small (<1cm) non-functioning...
Ann Endocrinol (Paris) - issue: 1 - volume: 81 - pages: 39-43.

Graillon, T.  et al. 2020

Everolimus and Octreotide for Patients with Recurrent Meningioma: Results from the Phase II CEVOREM Trial.

PURPOSE: Aggressive meningiomas that progress after surgery/radiotherapy represent an unmet medical need. Strong and constant expression of SSTR2A receptors and activation of the Pi3K/Akt/mTOR...
Clin Cancer Res - issue: 3 - volume: 26 - pages: 552-557.

Graillon, T.  et al. 2020

Transcranial approach in giant pituitary adenomas: results and outcome in a modern series.

BACKGROUND: Today, transcranial (TC) approach indications are particularly rare in pituitary adenomas (PA), representing 1.1% of all PA surgeries in our experience. In these rare and selected cases,...
J Neurosurg Sci - issue: 1 - volume: 64 - pages: 25-36.

Coppin, L.  et al. 2020

Should the GCM2 gene be tested when screening for familial primary hyperparathyroidism?

OBJECTIVE: Primary hyperparathyroism (PHPT) is a disease with either sporadic or inherited presentation. Germline mutations responsible for this disease can be found in different genes, the most...
Eur J Endocrinol - issue: 1 - volume: 182 - pages: 57-65.

Denis, J.  et al. 2019

[Development of molecular analysis by digital PCR for clinical practice: positioning, current applications and perspectives].

This review is the second part of the workshop on digital PCR (dPCR) proposed by the working group of the French society of clinical biology. The first part of the paper discusses the advantages and...
Ann Biol Clin (Paris) - issue: 6 - volume: 77 - pages: 619-637.

Reichert, T.  et al. 2019

Exploring the link between tumour metabolism and succinate dehydrogenase deficiency: A (18) F-FDOPA PET/CT study in head and neck paragangliomas.

OBJECTIVES: Nuclear imaging findings by virtue of phenotyping disease heavily depend on genetic background, metabolites, cell membrane specific targets and signalling pathways. PPGL related to...
Clin Endocrinol (Oxf) - issue: 6 - volume: 91 - pages: 879-884.

Castinetti, F.  et al. 2019

Letter to the Editor: "Why We Should Still Treat by Neurosurgery Patients With Cushing Disease and a Normal or Inconclusive Pituitary MRI".


J Clin Endocrinol Metab - issue: 12 - volume: 104 - pages: 5791-5792.

Valassi, E.  et al. 2019

High mortality within 90 days of diagnosis in patients with Cushing's syndrome: results from the ERCUSYN registry.

OBJECTIVE: Patients with Cushing's syndrome (CS) have increased mortality. The aim of this study was to evaluate the causes and time of death in a large cohort of patients with CS and to establish...
Eur J Endocrinol - issue: 5 - volume: 181 - pages: 461-472.

Vergier, J.  et al. 2019

DIAGNOSIS OF ENDOCRINE DISEASE: Pituitary stalk interruption syndrome: etiology and clinical manifestations.

Pituitary stalk interruption syndrome (PSIS) is a congenital pituitary anatomical defect. This syndrome is an antenatal developmental defect belonging to the holoprosencephaly phenotype spectrum. It...
Eur J Endocrinol - issue: 5 - volume: 181 - pages: R199-R209.

Cuny, T.  et al. 2019

Acromegaly in Carney complex.

PURPOSE: Carney complex (CNC) is a rare autosomal dominant syndrome, characterized by mucocutaneous pigmentation, cardiac, cutaneous myxomas and endocrine overactivity. It is generally caused by...
Pituitary - issue: 5 - volume: 22 - pages: 456-466.

Albarel, F.  et al. 2019

MANAGEMENT OF ENDOCRINE DISEASE: Immune check point inhibitors-induced hypophysitis.

In recent years, the development of immunotherapy has constituted a revolution in the therapy for many cancers, with a specific toxicity profile including endocrine immune-related adverse events....
Eur J Endocrinol - issue: 3 - volume: 181 - pages: R107-R118.

Neumann, HPH.  et al. 2019

Comparison of Pheochromocytoma-Specific Morbidity and Mortality Among Adults With Bilateral Pheochromocytomas Undergoing Total Adrenalectomy vs Cortical-Sparing Adrenalectomy.

IMPORTANCE: Large studies investigating long-term outcomes of patients with bilateral pheochromocytomas treated with either total or cortical-sparing adrenalectomies are needed to inform clinical...
JAMA Netw Open - issue: 8 - volume: 2 - pages: e198898.

Bajuk Studen, K.  et al. 2019

Genetic analysis of adult Slovenian patients with combined pituitary hormone deficiency.

PURPOSE: Among genetic causes of combined pituitary hormone deficiency (CPHD), mutations of genes coding for transcription factors involved in pituitary development have been implicated. Congenital...
Endocrine - issue: 2 - volume: 65 - pages: 379-385.

Florea, SM.  et al. 2019

Ophthalmoplegic complications in transsphenoidal pituitary surgery.

OBJECTIVE: Ophthalmoplegia is a rare complication of transsphenoidal surgery, only noted in a few studies. The purpose of this study was to analyze the complications of cranial nerve III, IV, or VI...
J Neurosurg - issue: - volume: - pages: 1-9.

Amodru, V.  et al. 2019

LARGE ADRENAL INCIDENTALOMAS REQUIRE A DEDICATED DIAGNOSTIC PROCEDURE.

Objective: The management of large nonsecreting adrenal tumors (at least 4 cm) is still a matter of debate as it is unclear whether imaging, especially (18)F-fluorodeoxyglucose (FDG), can be used to...
Endocr Pract - issue: 7 - volume: 25 - pages: 669-677.

Castinetti, F.  et al. 2019

Age and MEN2 outcome.


Aging (Albany NY) - issue: 11 - volume: 11 - pages: 3416-3417.

Romanet, P.  et al. 2019

Proposition of adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants.

In 2015, the ACMG-AMP guidelines provided a general procedure for the objective and reproducible classification of genomic variants. While the benefits of this framework are of major importance, its...
Hum Mutat - issue: 6 - volume: 40 - pages: 661-674.

Amodru, V.  et al. 2019

Tumor multifocality with vagus nerve involvement as a phenotypic marker of SDHD mutation in patients with head and neck paragangliomas: A (18) F-FDOPA PET/CT study.

BACKGROUND: (18) F-FDOPA PET/CT was proved to be a highly sensitive imaging method for detecting head and neck paraganglioma (HNPGL). The primary aim of the study was to evaluate the relationship...
Head Neck - issue: 6 - volume: 41 - pages: 1565-1571.

Castinetti, F.  et al. 2019

[Immunotherapy-induced endocrinopathies: Insights from the 2018 French Endocrine Society Guidelines].

The management of cancer patients has changed due to the considerably more frequent use of immune checkpoint inhibitors (ICPI). However, the use of ICPI has a risk of side-effects, particularly...
Bull Cancer - issue: 5 - volume: 106 - pages: 492-496.

Castinetti, F.  et al. 2019

Radiotherapy as a tool for the treatment of Cushing's disease.

Treatment of Cushing's disease (CD) is one of the most challenging tasks in endocrinology. The first-line treatment, transsphenoidal pituitary surgery, is associated with a high failure rate and a...
Eur J Endocrinol - issue: 5 - volume: 180 - pages: D9-D18.

Sahakian, N.  et al. 2019

Clinical management of difficult to treat macroprolactinomas.

INTRODUCTION: Prolactinomas represent the most common pituitary adenomas encountered in the clinic. While a majority of these tumors will be successfully treated by dopamine agonist (DA) such as...
Expert Rev Endocrinol Metab - issue: 3 - volume: 14 - pages: 179-192.

Castinetti, F.  et al. 2019

Thyroiditis and immune check point inhibitors: the post-marketing experience using the French National Pharmacovigilance database.


Fundam Clin Pharmacol - issue: 2 - volume: 33 - pages: 239-240.

Graillon, T.  et al. 2019

Functioning gonadotroph adenoma with severe ovarian hyperstimulation syndrome: A new emergency in pituitary adenoma surgery? Surgical considerations and literature review.

The authors reported 2
Ann Endocrinol (Paris) - issue: 2 - volume: 80 - pages: 122-127.

Castinetti, F.  et al. 2019

Natural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study.

BACKGROUND: Multiple endocrine neoplasia type 2B is a rare syndrome caused mainly by Met918Thr germline RET mutation, and characterised by medullary thyroid carcinoma, phaeochromocytoma, and...
Lancet Diabetes Endocrinol - issue: 3 - volume: 7 - pages: 213-220.

Veyrat-Durebex, C.  et al. 2019

Metabolomics signatures of a subset of RET variants according to their oncogenic risk level.

Thirty percent of medullary thyroid carcinomas (MTCs) are related to dominant germline pathogenic variants in the RET proto-oncogene. According to their aggressiveness, these pathogenic variants are...
Endocr Relat Cancer - issue: 3 - volume: 26 - pages: 379-389.

Leroy-Freschini, B.  et al. 2019

Early (18)F-FDOPA PET/CT imaging after carbidopa premedication as a valuable diagnostic option in patients with insulinoma.

PURPOSE: Data on the diagnostic value of (18)F-FDOPA PET/CT in patients with insulinoma are limited and are focused on small patient populations explored using different PET/CT protocols and the...
Eur J Nucl Med Mol Imaging - issue: 3 - volume: 46 - pages: 686-695.

Brue, T.  et al. 2019

Diabetes in patients with acromegaly treated with pegvisomant: observations from acrostudy.

PURPOSE: To explore the effects of pegvisomant (PEGV) on glucose metabolism in patients with acromegaly within ACROSTUDY, an international, observational, prospective safety surveillance study....
Endocrine - issue: 3 - volume: 63 - pages: 563-572.

Romanet, P.  et al. 2019

UMD-MEN1 Database: An Overview of the 370 MEN1 Variants Present in 1676 Patients From the French Population.

CONTEXT: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the MEN1 gene characterized by a broad spectrum of clinical manifestations, of which the...
J Clin Endocrinol Metab - issue: 3 - volume: 104 - pages: 753-764.

Romanet, P.  et al. 2019

Using Digital Droplet Polymerase Chain Reaction to Detect the Mosaic GNAS Mutations in Whole Blood DNA or Circulating Cell-Free DNA in Fibrous Dysplasia and McCune-Albright Syndrome.

The GNAS postzygotic mosaic activating mutations involved in fibrous dysplasia and McCune-Albright syndrome (MAS) are not detectable in leukocytes by Sanger sequencing. Digital droplet polymerase...
J Pediatr - issue: - volume: 205 - pages: 281-285.e4.

Castinetti, F.  et al. 2019

French Endocrine Society Guidance on endocrine side effects of immunotherapy.

The management of cancer patients has changed due to the considerably more frequent use of immune checkpoint inhibitors (ICPIs). However, the use of ICPI has a risk of side effects, particularly...
Endocr Relat Cancer - issue: 2 - volume: 26 - pages: G1-G18.

Jullien, N.  et al. 2019

Heterozygous LHX3 mutations may lead to a mild phenotype of combined pituitary hormone deficiency.

LHX3 is an LIM domain transcription factor involved in the early steps of pituitary ontogenesis. We report here functional studies of three allelic variants, including the first heterozygous variant...
Eur J Hum Genet - issue: 2 - volume: 27 - pages: 216-225.

Caron, P.  et al. 2019

Correction to: Signs and symptoms of acromegaly at diagnosis: the physician's and the patient's perspectives in the ACRO-POLIS study.

The original version of this article unfortunately contained a mistake in corresponding author name as Philippe Chanson in the affiliation section.
Endocrine - issue: 1 - volume: 63 - pages: 130.

Caron, P.  et al. 2019

Signs and symptoms of acromegaly at diagnosis: the physician's and the patient's perspectives in the ACRO-POLIS study.

PURPOSE: Acromegaly is characterized by a broad range of manifestations. Early diagnosis is key to treatment success, but is often delayed as symptomatology overlaps with common disorders. We...
Endocrine - issue: 1 - volume: 63 - pages: 120-129.

Asseeva, P.  et al. 2019

Value of (123)I/(99m)Tc-sestamibi parathyroid scintigraphy with subtraction SPECT/CT in primary hyperparathyroidism for directing minimally invasive parathyroidectomy.

BACKGROUND: Primary hyperparathyroidism/(PHPT) is one of the most common endocrinological conditions. Surgery remains the only curative option. We have evaluated the performance of double isotope...
Am J Surg - issue: 1 - volume: 217 - pages: 108-113.

Muracciole, X.  et al. 2018

Negative Survival Impact of High Radiation Doses to Neural Stem Cells Niches in an IDH-Wild-Type Glioblastoma Population.

Aims: Assess the impact of radiation doses to neural stem cell (NSC) niches in patients with IDH-wild-type glioblastoma. Materials and Methods: Fifty patients were included in the study. NSC niches...
Front Oncol - issue: - volume: 8 - pages: 426.

Albarel, F.  et al. 2018

Pre-surgical medical treatment, a major prognostic factor for long-term remission in acromegaly.

PURPOSE: To determine whether pre-surgical medical treatment (PSMT) using long-acting Somatostatin analogues in acromegaly may improve long-term surgical outcome and to determine decision making...
Pituitary - issue: 6 - volume: 21 - pages: 615-623.

Buchfelder, M.  et al. 2018

Long-term treatment with pegvisomant: observations from 2090 acromegaly patients in ACROSTUDY.

Objectives ACROSTUDY is an international, non-interventional study of acromegaly patients treated with pegvisomant (PEGV), a growth hormone receptor antagonist and has been conducted since 2004 in 15...
Eur J Endocrinol - issue: 6 - volume: 179 - pages: 419-427.

Cuny, T.  et al. 2018

Role of the tumor microenvironment in digestive neuroendocrine tumors.

Gastroenteropancreatic neuroendocrine tumors (GEP-NETs) represent a group of heterogeneous tumors whose incidence increased over the past few years. Around half of patients already present with...
Endocr Relat Cancer - issue: 11 - volume: 25 - pages: R519-R544.

Maurice, F.  et al. 2018

Cushing Syndrome Is Associated With Subclinical LV Dysfunction and Increased Epicardial Adipose Tissue.


J Am Coll Cardiol - issue: 18 - volume: 72 - pages: 2276-2277.

Maurice, F.  et al. 2018

Active cushing syndrome patients have increased ectopic fat deposition and bone marrow fat content compared to cured patients and healthy subjects: a pilot 1H-MRS study.

OBJECTIVE: Glucocorticoid excess is one of the most important causes of bone disorders. Bone marrow fat (BMF) has been identified as a l new mediator of bone metabolism. Cushing syndrome (CS), is a...
Eur J Endocrinol - issue: 5 - volume: 179 - pages: 307-317.

Castinetti, F.  et al. 2018

Introduction to expert opinion on endocrine complications of new anticancer therapies.

Over the last 10 years, cancer treatment has progressed, with increasing use of tyrosine kinase inhibitors, mTOR inhibitors and, most recently, immunotherapy. These molecules, however, also incur...
Ann Endocrinol (Paris) - issue: 5 - volume: 79 - pages: 535-538.

Castinetti, F.  et al. 2018

Endocrine side-effects of new anticancer therapies: Overall monitoring and conclusions.

The present final consensus statement of the French Society of Endocrinology lays out the assessments that are to be systematically performed before and during anticancer treatment by immunotherapy,...
Ann Endocrinol (Paris) - issue: 5 - volume: 79 - pages: 591-595.

Rochette, C.  et al. 2018

Psychological impact of von Hippel-Lindau genetic screening in patients with a previous history of hemangioblastoma of the central nervous system.

Von Hippel-Lindau (VHL) syndrome is a hereditary cancer syndrome characterized by a high risk of developing benign and malignant tumors, including central nervous system hemangioblastomas (CNS HBs)....
J Psychosoc Oncol - issue: 5 - volume: 36 - pages: 624-634.

Vermalle, M.  et al. 2018

[Hereditary pheochromocytoma and paraganglioma: screening and follow-up strategies in asymptomatic mutation carriers].

The management of pheochromocytoma and paraganglioma has deeply evolved over the last years due to the discovery of novel genes of susceptibility, especially SDHx, MAX and TMEM127. While the...
Ann Endocrinol (Paris) - issue: - volume: 79 Suppl 1 - pages: S10-S21.

Vermalle, M.  et al. 2018

Lack of functional remission in Cushing's syndrome.

INTRODUCTION: Hypercortisolism leads to severe clinical consequences persisting after the onset of remission. These physical sequelae of cortisol exposure are known to profoundly impact the patient's...
Endocrine - issue: 3 - volume: 61 - pages: 518-525.

Ku, CR.  et al. 2018

Long-acting FC-fusion rhGH (GX-H9) shows potential for up to twice-monthly administration in GH-deficient adults.

OBJECTIVE: Hybrid Fc-fused rhGH (GX-H9) is a long-acting recombinant human growth hormone (GH) under clinical development for both adults and children with GH deficiency (GHD). We compared the...
Eur J Endocrinol - issue: 3 - volume: 179 - pages: 169-179.

Romanet, P.  et al. 2018

Clinical study on the efficacy, acceptance, and safety of hearing aids in patients with mild to moderate presbyacusis.

BACKGROUND: The primary objective of this trial was to demonstrate the effect of wearing a Hearing aid (HA) on improvement of hearing and comprehension in everyday life situations. METHODS: This...
Panminerva Med - issue: 3 - volume: 60 - pages: 92-100.

Neumann, HP.  et al. 2018

65 YEARS OF THE DOUBLE HELIX: Genetics informs precision practice in the diagnosis and management of pheochromocytoma.

Although the authors of the present review have contributed to genetic discoveries in the field of pheochromocytoma research, we can legitimately ask whether these advances have led to improvements...
Endocr Relat Cancer - issue: 8 - volume: 25 - pages: T201-T219.

Trainer, PJ.  et al. 2018

A randomised, open-label, parallel group phase 2 study of antisense oligonucleotide therapy in acromegaly.

OBJECTIVE: ATL1103 is a second-generation antisense oligomer targeting the human growth hormone (GH) receptor. This phase 2 randomised, open-label, parallel-group study assessed the potential of...
Eur J Endocrinol - issue: 2 - volume: 179 - pages: 97-108.

Gabriel, S.  et al. 2018

Prospective evaluation of (68) Ga-DOTATATE PET/CT in limited disease neuroendocrine tumours and/or elevated serum neuroendocrine biomarkers.

CONTEXT: The (68) Ga-labelled somatostatin analogues ((68) Ga-DOTA-SSAs) is becoming popular as an important diagnostic tool in neuroendocrine tumours as evidenced by a growing number of reports...
Clin Endocrinol (Oxf) - issue: 2 - volume: 89 - pages: 155-163.

Borius, P.  et al. 2018

An Open-Label, Analgesic Efficacy and Safety of Pituitary Radiosurgery for Patients With Opioid-Refractory Pain: Study Protocol for a Randomized Controlled Trial.

BACKGROUND: Hypophysectomy performed by craniotomy or percutaneous techniques leads to complete pain relief in more than 70% to 80% of cases for opioid refractory cancer pain. Radiosurgery could be...
Neurosurgery - issue: 1 - volume: 83 - pages: 146-153.

Paladino, NC.  et al. 2018

Characterization of adrenocortical tumors by (18)F-FDG PET/CT: Does steroid hormone hypersecretion status modify the uptake pattern?

BACKGROUND: adrenal tumor-to-liver uptake value (Tmx:Lmx) on (18)F-FDG PET/CT is an accurate and reproducible PET parameter in the distinction between benign and malignant adrenal masses. The...
Surg Oncol - issue: 2 - volume: 27 - pages: 231-235.

Brue, T.  et al. 2018

MANAGEMENT OF ENDOCRINE DISEASE: Management of Cushing's syndrome during pregnancy: solved and unsolved questions.

With fewer than 200 reported cases, Cushing's syndrome (CS) in pregnancy remains a diagnostic and therapeutic challenge. In normal pregnancies, misleading signs may be observed such as striae or...
Eur J Endocrinol - issue: 6 - volume: 178 - pages: R259-R266.

Bahougne, T.  et al. 2018

Functioning Mediastinal Paraganglioma Associated with a Germline Mutation of von Hippel-Lindau Gene.

We report the case of a 21-year old woman presenting with high blood pressure and raised normetanephrine levels. Indium-111-pentetreotide single photon-emission computed tomography with computed...
J Clin Med - issue: 6 - volume: 7 - pages: .

Young, J.  et al. 2018

Hepatic safety of ketoconazole in Cushing's syndrome: results of a Compassionate Use Programme in France.

OBJECTIVE: Ketoconazole (KTZ) is one of few available treatments for Cushing's syndrome (CS). Although KTZ has been associated with severe hepatotoxicity, little information is available about...
Eur J Endocrinol - issue: 5 - volume: 178 - pages: 447-458.

Ta, .  et al. 2018

18F-FDOPA PET/CT Imaging of MAX-Related Pheochromocytoma.

CONTEXT: MYC-associated factor X (MAX) has been recently described as a new susceptibility pheochromocytoma (PHEO) gene with a total of ~40 reported cases. At present, no study has specifically...
J Clin Endocrinol Metab - issue: 4 - volume: 103 - pages: 1574-1582.

Vitellius, G.  et al. 2018

Significant prevalence of NR3C1 mutations in incidentally discovered bilateral adrenal hyperplasia: results of the French MUTA-GR Study.

BACKGROUND: Recently discovered mutations of NR3C1 gene, encoding for the GR, in patients with glucocorticoid resistance and bilateral adrenal incidentalomas prompted us to investigate whether GR...
Eur J Endocrinol - issue: 4 - volume: 178 - pages: 411-423.

Valassi, E.  et al. 2018

Preoperative medical treatment in Cushing's syndrome: frequency of use and its impact on postoperative assessment: data from ERCUSYN.

BACKGROUND: Surgery is the definitive treatment of Cushing's syndrome (CS) but medications may also be used as a first-line therapy. Whether preoperative medical treatment (PMT) affects postoperative...
Eur J Endocrinol - issue: 4 - volume: 178 - pages: 399-409.

McCormack, A.  et al. 2018

Treatment of aggressive pituitary tumours and carcinomas: results of a European Society of Endocrinology (ESE) survey 2016.

OBJECTIVE: To collect outcome data in a large cohort of patients with aggressive pituitary tumours (APT)/carcinomas (PC) and specifically report effects of temozolomide (TMZ) treatment. DESIGN:...
Eur J Endocrinol - issue: 3 - volume: 178 - pages: 265-276.

Bodokh, Y.  et al. 2018

ALK-TPM3 rearrangement in adult renal cell carcinoma: Report of a new case showing loss of chromosome 3 and literature review.

Seven cases of translocation-associated renal cell carcinoma involving ALK (ALK-tRCC) were referenced in the last World Health Organization's classification (2016), in a group of emerging/provisional...
Cancer Genet - issue: - volume: 221 - pages: 31-37.

Reznik, Y.  et al. 2018

SFE/SFEDP adrenal insufficiency French consensus: Introduction and handbook.

The French endocrinology society (SFE) and the French pediatric endocrinology society (DFSDP) have drawn up recommendations for the management of primary and secondary adrenal insufficiency in the...
Ann Endocrinol (Paris) - issue: 1 - volume: 79 - pages: 1-22.

Gilly, O.  et al. 2018

Unilateral aggressive pheochromocytoma revealed by a massive intraperitoneal hemorrhage five years after an initial presentation suggesting an adrenal hematoma.


Ann Endocrinol (Paris) - issue: 1 - volume: 79 - pages: 48-52.

Amodru, V.  et al. 2018

Quantitative (18)F-DOPA PET/CT in pheochromocytoma: the relationship between tumor secretion and its biochemical phenotype.

INTRODUCTION: (18)F-FDOPA illustrates the properties of uptake and storage of catecholamines in pheochromocytomas (PHEOs). Until now, the relationship between (18)F-FDOPA quantitative parameters and...
Eur J Nucl Med Mol Imaging - issue: 2 - volume: 45 - pages: 278-282.

Guerin, C.  et al. 2018

Looking beyond the thyroid: advances in the understanding of pheochromocytoma and hyperparathyroidism phenotypes in MEN2 and of non-MEN2 familial forms.

Over the last years, the knowledge of MEN2 and non-MEN2 familial forms of pheochromocytoma (PHEO) has increased. In MEN2, PHEO is the second most frequent disease: the penetrance and age at diagnosis...
Endocr Relat Cancer - issue: 2 - volume: 25 - pages: T15-T28.

Castinetti, F.  et al. 2018

A comprehensive review on MEN2B.

MEN2B is a very rare autosomal dominant hereditary tumor syndrome associated with medullary thyroid carcinoma (MTC) in 100% cases, pheochromocytoma in 50% cases and multiple extra-endocrine features,...
Endocr Relat Cancer - issue: 2 - volume: 25 - pages: T29-T39.

Lacroix, A.  et al. 2018

Efficacy and safety of once-monthly pasireotide in Cushing's disease: a 12 month clinical trial.

BACKGROUND: Cushing's disease is a rare debilitating endocrine disorder for which few prospective interventional studies have been done. We report results of the first phase 3 trial assessing...
Lancet Diabetes Endocrinol - issue: 1 - volume: 6 - pages: 17-26.

Petrossians, P.  et al. 2017

Acromegaly at diagnosis in 3173 patients from the Liège Acromegaly Survey (LAS) Database

Acromegaly is a rare disorder caused by chronic growth hormone (GH) hypersecretion. While diagnostic and therapeutic methods have advanced, little information exists on trends in acromegaly...
Endocr. Relat. Cancer - issue: 10 - volume: 24 - pages: 505-518.

Mohamed, A.  et al. 2017

Anti-proliferative and anti-secretory effects of everolimus on human pancreatic neuroendocrine tumors primary cultures: is there any benefit from combination with somatostatin analogs?

Therapeutic management of gastroenteropancreatic neuroendocrine tumors (GEP-NETs) is challenging. The mammalian target of rapamycin (mTOR) inhibitor everolimus recently obtained approval from the Food...
Oncotarget - issue: 25 - volume: 8 - pages: 41044-41063.

Castinetti, F.  et al. 2017

Gamma Knife radiosurgery for hypothalamic hamartoma preserves endocrine functions

Gamma Knife radiosurgery (GK) is an effective treatment for hypothalamic hamartoma. No precise data are available on the risk of endocrine side effects of this treatment. In this study, 34 patients...
Epilepsia - issue: - volume: 58 Suppl 2 - pages: 72-76.

Brue, T.  et al. 2017

Lessons from monogenic causes of growth hormone deficiency

Through the multicentric international GENHYPOPIT network, 10 transcription factor genes involved in pituitary development have been screened in more than 1200 patients with constitutional...
Ann. Endocrinol. (Paris) - issue: 2 - volume: 78 - pages: 77-79.

Maione, L.  et al. 2017

Changes in the management and comorbidities of acromegaly over three decades: the French Acromegaly Registry

CONTEXT: Acromegaly is a rare disease associated with chronic multisystem complications. National registries have been created in several countries. DESIGN: The French Registry contains data on...
Eur. J. Endocrinol. - issue: 5 - volume: 176 - pages: 645-655.

Franck, SE.  et al. 2017

A multivariable prediction model for pegvisomant dosing: monotherapy and in combination with long-acting somatostatin analogues

BACKGROUND: Effective treatment of acromegaly with pegvisomant (PEGV), a growth hormone receptor antagonist, requires an appropriate dose titration. PEGV doses vary widely among individual patients,...
Eur. J. Endocrinol. - issue: 4 - volume: 176 - pages: 421-430.

Eroukhmanoff, J.  et al. 2017

MRI follow-up is unnecessary in patients with macroprolactinomas and long-term normal prolactin levels on dopamine agonist treatment

OBJECTIVE: Both antitumor and antisecretory efficacies of dopamine agonists (DA) make them the first-line treatment of macroprolactinomas. However, there is no guideline for MRI follow-up once...
Eur. J. Endocrinol. - issue: 3 - volume: 176 - pages: 323-328.

Graillon, T.  et al. 2017

Transcranial approach in giant pituitary adenomas: results and outcome in a modern series

BACKGROUND: Today, transcranial (TC) approach indications are particularly rare in pituitary adenomas (PA), representing 1.1% of all PA surgeries in our experience. In these rare and selected cases,...
J Neurosurg Sci - issue: - volume: - pages: .

Képénékian, L.  et al. 2016

Long-term outcome of macroprolactinomas

OBJECTIVE: Management of macroprolactinomas has dramatically changed in recent decades, from surgical to medical treatment as first-line therapy, with the development of dopamine agonists (DA). But...
Ann. Endocrinol. (Paris) - issue: 6 - volume: 77 - pages: 641-648.

Potorac, I.  et al. 2016

T2-weighted MRI signal predicts hormone and tumor responses to somatostatin analogs in acromegaly

GH-secreting pituitary adenomas can be hypo-, iso- or hyper-intense on T2-weighted MRI sequences. We conducted the current multicenter study in a large population of patients with acromegaly to...
Endocr. Relat. Cancer - issue: 11 - volume: 23 - pages: 871-881.

Albarel, F.  et al. 2016

Successful IVF pregnancy despite inadequate ovarian steroidogenesis due to congenital lipoid adrenal hyperplasia (CLAH): a case report

Steroidogenic acute regulatory protein (StAR) mutations are the most frequent aetiologies of congenital lipoid adrenal hyperplasia (CLAH). Phenotypes may vary, and puberty may be absent in affected...
Hum. Reprod. - issue: 11 - volume: 31 - pages: 2609-2612.

Brue, T.  et al. 2016

The risks of overlooking the diagnosis of secreting pituitary adenomas

Secreting pituitary adenomas that cause acromegaly and Cushing's disease, as well as prolactinomas and thyrotroph adenomas, are uncommon, usually benign, slow-growing tumours. The rarity of these...
Orphanet J Rare Dis - issue: 1 - volume: 11 - pages: 135.

Cuny, T.  et al. 2016

In vitro impact of pegvisomant on growth hormone-secreting pituitary adenoma cells

Pegvisomant (PEG), an antagonist of growth hormone (GH)-receptor (GHR), normalizes insulin-like growth factor 1 (IGF1) oversecretion in most acromegalic patients unresponsive to somatostatin analogs...
Endocr. Relat. Cancer - issue: 7 - volume: 23 - pages: 509-519.

Francou, B.  et al. 2016

Prevalence of KISS1 Receptor mutations in a series of 603 patients with normosmic congenital hypogonadotrophic hypogonadism and characterization of novel mutations: a single-centre study

STUDY QUESTION: What is the exact prevalence of Kisspeptin Receptor (KISS1R) mutations in the population of patients with normosmic congenital hypogonadotrophic hypogonadism (nCHH) by comparison with...
Hum. Reprod. - issue: 6 - volume: 31 - pages: 1363-1374.

Castinetti, F.  et al. 2016

MECHANISMS IN ENDOCRINOLOGY: An update in the genetic aetiologies of combined pituitary hormone deficiency

Over the last 5 years, new actors involved in the pathogenesis of combined pituitary hormone deficiency in humans have been reported: they included a member of the immunoglobulin superfamily...
Eur. J. Endocrinol. - issue: 6 - volume: 174 - pages: R239-247.

Castinetti, F.  et al. 2016

GPR101 Mutations are not a Frequent Cause of Congenital Isolated Growth Hormone Deficiency

Patients with Xq26.3 microduplication present with X-linked acrogigantism (X-LAG) syndrome, an early-childhood form of gigantism due to marked growth hormone (GH) hypersecretion from mixed GH-PRL...
Horm. Metab. Res. - issue: 6 - volume: 48 - pages: 389-393.

Caron, PJ.  et al. 2016

Effects of lanreotide Autogel primary therapy on symptoms and quality-of-life in acromegaly: data from the PRIMARYS study

PURPOSE: To evaluate the effects of lanreotide Autogel on patient-reported outcomes and association with biochemical control, using PRIMARYS data. METHODS: PRIMARYS was a 1-year, open-label study of...
Pituitary - issue: 2 - volume: 19 - pages: 149-157.

Bernard, V.  et al. 2016

Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome

STUDY QUESTION: What are the prevalence and the outcomes of spontaneous pregnancies (SP) in a large cohort of French women with Turner syndrome (TS)? SUMMARY ANSWER: Amongst 480 women with TS, 27...
Hum. Reprod. - issue: 4 - volume: 31 - pages: 782-788.

Fiot, E.  et al. 2016

X-chromosome gene dosage as a determinant of impaired pre and postnatal growth and adult height in Turner syndrome

OBJECTIVE: Short stature is a key aspect of the phenotype of patients with Turner syndrome (TS). SHOX haploinsufficiency is responsible for about two-thirds of the height deficit. The aim was to...
Eur. J. Endocrinol. - issue: 3 - volume: 174 - pages: 281-288.

Guerin, C.  et al. 2016

Bilateral adrenalectomy in the 21st century: when to use it for hypercortisolism?

Therapeutic options available for the treatment of Cushing's syndrome (CS) have expanded over the last 5 years. For instance, the efficient management of severe hypercortisolism using a combination of...
Endocr. Relat. Cancer - issue: 2 - volume: 23 - pages: R131-142.

Castinetti, F.  et al. 2016

MANAGEMENT OF ENDOCRINE DISEASE: Outcome of adrenal sparing surgery in heritable pheochromocytoma

The management of hereditary pheochromocytoma has drastically evolved in the last 20 years. Bilateral pheochromocytoma does not increase mortality in MEN2 or von Hippel-Lindau (VHL) mutation carriers...
Eur. J. Endocrinol. - issue: 1 - volume: 174 - pages: R9-18.

Philippon, M.  et al. 2015

Successful pregnancies and healthy live births using frozen-thawed sperm retrieved by a new modified Hotchkiss procedure in males with retrograde ejaculation: first case series

BACKGROUND: In couples presenting with retrograde ejaculation refractory to medical treatment, the first choice of fertility treatment should be Assisted Reproductive Techniques using rapidly purified...
Basic Clin Androl - issue: - volume: 25 - pages: 5.

Jullien, N.  et al. 2015

Dose-dependent dual role of PIT-1 (POU1F1) in somatolactotroph cell proliferation and apoptosis

To test the role of wtPIT-1 (PITWT) or PIT-1 (R271W) (PIT271) in somatolactotroph cells, we established, using inducible lentiviral vectors, sublines of GH4C1 somatotroph cells that allow the blockade...
PLoS ONE - issue: 3 - volume: 10 - pages: e0120010.

Chanson, P.  et al. 2015

Pegvisomant treatment in patients with acromegaly in clinical practice: The French ACROSTUDY

OBJECTIVE: To monitor long-term pegvisomant treatment of patients with acromegaly in routine clinical practice. PATIENTS AND METHODS: The French ACROSTUDY is part of the global ACROSTUDY, an...
Ann. Endocrinol. (Paris) - issue: 6 - volume: 76 - pages: 664-670.

Pleil, A.  et al. 2015

Development of a Prediction Model of Disease Activity in Support of Clinical Practice - the Acrodat Experience


Value Health - issue: 7 - volume: 18 - pages: A708.

Castinetti, F.  et al. 2015

ISL1 Is Necessary for Maximal Thyrotrope Response to Hypothyroidism

ISLET1 is a homeodomain transcription factor necessary for development of the pituitary, retina, motor neurons, heart, and pancreas. Isl1-deficient mice (Isl1(-/-)) die early during embryogenesis at...
Mol. Endocrinol. - issue: 10 - volume: 29 - pages: 1510-1521.

Le Marc'hadour, P.  et al. 2015

Postoperative follow-up of Cushing's disease using cortisol, desmopressin and coupled dexamethasone-desmopressin tests: a head-to-head comparison

OBJECTIVE: Predicting the outcome of patients operated on for Cushing's disease (CD) is a challenging task. Our objective was to assess the accuracy of immediate postsurgical plasma cortisol,...
Clin. Endocrinol. (Oxf) - issue: 2 - volume: 83 - pages: 216-222.

Petersenn, S.  et al. 2015

Therapy of endocrine disease: outcomes in patients with Cushing's disease undergoing transsphenoidal surgery: systematic review assessing criteria used to define remission and recurrence

OBJECTIVE: A number of factors can influence the reported outcomes of transsphenoidal surgery (TSS) for Cushing's disease - including different remission and recurrence criteria, for which there is no...
Eur. J. Endocrinol. - issue: 6 - volume: 172 - pages: R227-239.

Bouvattier, C.  et al. 2015

Clinical Outcome, Hormonal Status, Gonadotrope Axis, and Testicular Function in 219 Adult Men Born With Classic 21-Hydroxylase Deficiency. A French National Survey

CONTEXT: Outcomes of congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency (21OHD) have been widely studied in children and women, but less so in men. OBJECTIVE: The objective was to...
J. Clin. Endocrinol. Metab. - issue: 6 - volume: 100 - pages: 2303-2313.

Potorac, I.  et al. 2015

Pituitary MRI characteristics in 297 acromegaly patients based on T2-weighted sequences

Responses of GH-secreting adenomas to multimodal management of acromegaly vary widely between patients. Understanding the behavioral patterns of GH-secreting adenomas by identifying factors predictive...
Endocr. Relat. Cancer - issue: 2 - volume: 22 - pages: 169-177.

Castinetti, F.  et al. 2015

An observational study on adrenal insufficiency in a French tertiary centre: Real life versus theory

BACKGROUND: Patients suffering from adrenal insufficiency, whether primary (PAI) or secondary (SAI) have an increased mortality risk and increased morbidity. There are no guidelines on hydrocortisone...
Ann. Endocrinol. (Paris) - issue: 1 - volume: 76 - pages: 1-8.

Albarel, F.  et al. 2015

Long-term follow-up of ipilimumab-induced hypophysitis, a common adverse event of the anti-CTLA-4 antibody in melanoma

OBJECTIVE: Few data are published on the long-term follow-up of ipilimumab-induced hypophysitis, a cytotoxic T-lymphocyte antigen 4 antibody. We characterized hypophysitis in terms of clinical signs,...
Eur. J. Endocrinol. - issue: 2 - volume: 172 - pages: 195-204.

Castinetti, F.  et al. 2015

Combined pituitary hormone deficiency: current and future status

Over the last two decades, the understanding of the mechanisms involved in pituitary ontogenesis has largely increased. Since the first description of POU1F1 human mutations responsible for a...
J. Endocrinol. Invest. - issue: 1 - volume: 38 - pages: 1-12.

Brue, T.  et al. 2014

Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies

BACKGROUND: DAVID syndrome is a rare condition combining anterior pituitary hormone deficiency with common variable immunodeficiency. NFKB2 mutations have recently been identified in patients with...
BMC Med. Genet. - issue: - volume: 15 - pages: 139.

Mear, Y.  et al. 2014

Ghrelin receptor (GHS-R1a) and its constitutive activity in somatotroph adenomas: a new co-targeting therapy using GHS-R1a inverse agonists and somatostatin analogs

CONTEXT: The ghrelin receptor GHS-R1a is highly expressed in human somatotroph adenomas and exhibits unusually high basal signaling activity. In humans, the suppression of this constitutive activity...
J. Clin. Endocrinol. Metab. - issue: 12 - volume: 99 - pages: E2463-2471.

Gadelha, MR.  et al. 2014

Pasireotide versus continued treatment with octreotide or lanreotide in patients with inadequately controlled acromegaly (PAOLA): a randomised, phase 3 trial

BACKGROUND: Many patients with acromegaly do not achieve biochemical control despite receiving high doses of the first-generation somatostatin analogues octreotide or lanreotide. In the PAOLA trial,...
Lancet Diabetes Endocrinol - issue: 11 - volume: 2 - pages: 875-884.

Mohamed, A.  et al. 2014

Pasireotide and octreotide antiproliferative effects and sst2 trafficking in human pancreatic neuroendocrine tumor cultures

Gastroenteropancreatic neuroendocrine tumors (GEP-NETs) raise difficult therapeutic problems despite the emergence of targeted therapies. Somatostatin analogs (SSA) remain pivotal therapeutic drugs....
Endocr. Relat. Cancer - issue: 5 - volume: 21 - pages: 691-704.

Pivonello, R.  et al. 2014

Pasireotide treatment significantly improves clinical signs and symptoms in patients with Cushing's disease: results from a Phase III study

OBJECTIVE: Signs and symptoms of Cushing's disease are associated with high burden of illness. In this analysis, we evaluated the effect of pasireotide treatment on signs and symptoms in patients with...
Clin. Endocrinol. (Oxf) - issue: 3 - volume: 81 - pages: 408-417.

Bakiri, F.  et al. 2014

Pituitary apoplexy after somatostatin analogue administration: coincidental or causative?


Clin. Endocrinol. (Oxf) - issue: 3 - volume: 81 - pages: 471-473.

Nozières, C.  et al. 2014

p.Ala541Thr variant of MEN1 gene: a non deleterious polymorphism or a pathogenic mutation?

CONTEXT: Multiple Endocrine Neoplasia Type 1 (MEN1) is an autosomal dominant inherited syndrome, related to mutations in the MEN1 gene. Controversial data suggest that the nonsynonymous p.Ala541Thr...
Ann. Endocrinol. (Paris) - issue: 3 - volume: 75 - pages: 133-140.

Abdi, L.  et al. 2014

A monocentric experience of growth hormone replacement therapy in adult patients

OBJECTIVES: To describe the results of growth hormone (GH) therapy in adult GH-deficient patients treated in a tertiary referral center, with a focus on quality of life and adherence. PATIENTS AND...
Ann. Endocrinol. (Paris) - issue: 3 - volume: 75 - pages: 176-183.

Philippon, M.  et al. 2014

Bilateral neck exploration in patients with primary hyperparathyroidism and discordant imaging results: a single-centre study

INTRODUCTION: Focused parathyroidectomy is the treatment of choice for patients with concordant positive imaging. Bilateral cervical exploration is performed for cases with discordant imaging, yet...
Eur. J. Endocrinol. - issue: 5 - volume: 170 - pages: 719-725.

Castinetti, F.  et al. 2014

Outcomes of adrenal-sparing surgery or total adrenalectomy in phaeochromocytoma associated with multiple endocrine neoplasia type 2: an international retrospective population-based study

BACKGROUND: The prevention of medullary thyroid cancer in patients with multiple endocrine neoplasia type 2 syndrome has demonstrated the ability of molecular diagnosis and prophylactic surgery to...
Lancet Oncol. - issue: 6 - volume: 15 - pages: 648-655.

Castinetti, F.  et al. 2014

Ketoconazole in Cushing's disease: is it worth a try?

BACKGROUND: The use of ketoconazole has been recently questioned after warnings from the European Medicine Agencies and the Food and Drug Administration due to potential hepatotoxicity. However,...
J. Clin. Endocrinol. Metab. - issue: 5 - volume: 99 - pages: 1623-1630.

Caron, PJ.  et al. 2014

Tumor shrinkage with lanreotide Autogel 120 mg as primary therapy in acromegaly: results of a prospective multicenter clinical trial

CONTEXT: Methodological shortcomings often compromise investigations into the effects of primary somatostatin-analog treatment on tumor size in acromegaly. There are also limited data for the...
J. Clin. Endocrinol. Metab. - issue: 4 - volume: 99 - pages: 1282-1290.

Colao, A.  et al. 2014

Pasireotide versus octreotide in acromegaly: a head-to-head superiority study

CONTEXT: Biochemical control reduces morbidity and increases life expectancy in patients with acromegaly. With current medical therapies, including the gold standard octreotide long-acting-release...
J. Clin. Endocrinol. Metab. - issue: 3 - volume: 99 - pages: 791-799.

Becquet, D.  et al. 2014

Evidence for an internal and functional circadian clock in rat pituitary cells

In primary cultures of rat pituitary cells and in a pituitary sommatolactotroph cell line (GH4C1), endogenous core-clock- as well as hormone-genes such as prolactin displayed a rhythmic expression...
Mol. Cell. Endocrinol. - issue: 2 - volume: 382 - pages: 888-898.

Petersenn, S.  et al. 2014

High variability in baseline urinary free cortisol values in patients with Cushing's disease

OBJECTIVE: Twenty-four-hour urinary free cortisol (UFC) sampling is commonly used to evaluate Cushing's syndrome. Because there are few data on UFC variability in patients with active Cushing's...
Clin. Endocrinol. (Oxf) - issue: 2 - volume: 80 - pages: 261-269.

Maione, L.  et al. 2013

R31C GNRH1 mutation and congenital hypogonadotropic hypogonadism

Normosmic congenital hypogonadotropic hypogonadism (nCHH) is a rare reproductive disease leading to lack of puberty and infertility. Loss-of-function mutations of GNRH1 gene are a very rare cause of...
PLoS ONE - issue: 7 - volume: 8 - pages: e69616.

Cuny, T.  et al. 2013

Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis

CONTEXT: Germline mutations in the aryl hydrocarbon receptor interacting protein gene (AIP) have been identified in young patients (age ≤30 years old) with sporadic pituitary macroadenomas. Otherwise,...
Eur. J. Endocrinol. - issue: 4 - volume: 168 - pages: 533-541.

Albarel, F.  et al. 2013

Outcome of multimodal therapy in operated acromegalic patients, a study in 115 patients

INTRODUCTION: Given the new therapeutic options in acromegaly, it seemed important to evaluate the outcome of operated acromegalic patients today. OBJECTIVE: To analyse the characteristics and short-...
Clin. Endocrinol. (Oxf) - issue: 2 - volume: 78 - pages: 263-270.

Lamine, F.  et al. 2012

Unilateral agenesis of internal carotid artery associated with congenital combined pituitary hormone deficiency and pituitary stalk interruption without HESX1, LHX4 or OTX2 mutation: a case report

Agenesis of internal carotid artery (ICA) is an unusual finding in subjects with congenital Combined Pituitary hormone deficiency (CPHD) with only nine cases being reported to date but to our best...
Pituitary - issue: - volume: 15 Suppl 1 - pages: S81-86.

Budry, L.  et al. 2012

The selector gene Pax7 dictates alternate pituitary cell fates through its pioneer action on chromatin remodeling

The anterior and intermediate lobes of the pituitary gland derive from the surface ectoderm. They provide a simple system to assess mechanisms of developmental identity established by tissue...
Genes Dev. - issue: 20 - volume: 26 - pages: 2299-2310.

Langrand, C.  et al. 2012

Hypothalamo-pituitary sarcoidosis: a multicenter study of 24 patients

AIM: To assess clinical features, treatment and outcome of Hypothalamo-pituitary (HP) sarcoidosis and to determine whether HP is associated with a particular clinical phenotype of sarcoidosis. DESIGN:...
QJM - issue: 10 - volume: 105 - pages: 981-995.

Bachelot, A.  et al. 2012

Influence of hormonal control on LH pulsatility and secretion in women with classical congenital adrenal hyperplasia

OBJECTIVE: Women with classical congenital adrenal hyperplasia (CAH) exhibit reduced fertility due to several factors including anovulation. This has been attributed to a disturbed gonadotropic axis...
Eur. J. Endocrinol. - issue: 4 - volume: 167 - pages: 499-505.