Searchable abstracts of presentations at key conferences in endocrinology

ea0063p870 | Adrenal and Neuroendocrine Tumours 3 | ECE2019

Successful percutaneous radiofrequency ablation of a secreting juxtaglomerular cell tumour

Barraud Sara , Merzeau Nicolas , Diallo Alpha , Job Louis , Delemer Brigitte

Introduction: Juxtaglomerular cell tumour (JCT) or Reninoma, is a rare cause of curable secondary hypertension, usually presented as a small renal tumour and treated by tumorectomy or partial nephrectomy (PN). Minimally invasive treatment such as percutaneous radiofrequency ablation (PRFA) has gained popularity over the last decade to treat small tumors. We report the case of a woman with secondary hypertension due to JCT, successfully treated with PRFA....

ea0063oc10.2 | Adrenal 2 | ECE2019

Glucocorticoid resistance patients exhibit defective cortisol metabolism, responsible for functional hypermineralocorticism

Vitellius Geraldine , Delemer Brigitte , Chabre Olivier , Caron Philippe , Pussard Eric , Bouligand Jerome , Trabado Severine , Lombes Marc

Glucocorticoid resistance syndrome, a rare genetic disease, is often associated with glucocorticoid receptor (GR) loss-of-function mutations. Six patients carrying heterozygous mutations of NR3C1 gene encoding GR, either missense R477S, Q501H, L672P or non-sense R469X, R491X, Y660X mutations were studied. Surprisingly, NR3C1 mutation carriers presented with low kalemia, low plasma renin and aldosterone levels associated or not with arterial hypertension, cons...

ea0063oc14.3 | Sex Hormones | ECE2019

First identification of bone morphogenic protein receptor variants as a cause of primary ovarian insufficiency

Beau Isabelle , Renault Lucie , Patino Liliana , Magnin Francoise , Delemer Brigitte , Laissue Paul , Young Jacques , Binart Nadine

Bone morphogenetic proteins (BMPs) exhibit broad spectrum of biological activities in various tissues, including bone, cartilage, blood vessels, heart, kidney, neurons, liver and lung. BMPs are members of the transforming growth factor-β (TGF-β) family that bind to type II and type I serine-threonine kinase receptors, and transduce signals through Smad and non-Smad signalling pathways. BMPs together with other intraovarian growth factors are intimately involved in re...

ea0032p584 | Female reproduction | ECE2013

Deletions of TCF2 gene in Rokitansky syndrome (MRKH): a new candidate gene? About two new cases

Ancelle Deborah , Hecart Annie Claude , Gaillard Dominique , Bertin Eric , Delemer Brigitte

Introduction: MRKH syndrome is a rare congenital disease, which affects 1/5000 female births. It is usually diagnosed in the course of primary amenorrhea investigation. Characteristics are mullerian agenesis with 46XX karyotype. Only Wnt4 gene (1) was involved in a few cases of MRKH with hyperandrogenism. We describe two new cases with MRKH syndrome and complete deletion of TCF2 gene in the heterozygous state, this gene is also involved in monogenic diabetes ...

ea0063p106 | Calcium and Bone 1 | ECE2019

Case Report of a large family with hyperparathyroidism- jaw tumor syndrome (HPT-JT) and a deletion of the third exon of CDC73

Le Collen Lauriane , Barraud Sara , Francoise Odou Marie , Spodenkiewicz Marta , Braconnier Antoine , Zalzali Mohamad , Poirsier Celine , Delemer Brigitte

Heterozygote mutations of the gene CDC73 are responsible for 3 types of parathyroid diseases: familial hyperparathyroidism, parathyroid carcinoma, hyperparathyroidism-jaw tumor syndrome (and uterine or kidney lesions). The goal of our study was to describe the phenotype associated with the deletion of the 3rd exon of CDC73 found in a large family.Patients: We have medical records for 25 patients of a large family composed of 44 individu...

ea0022oc4.3 | Adrenals | ECE2010

Novel mutations in the glucocorticoid receptor gene: from familial bilateral adrenal hyperplasia to glucocorticoid receptor haploinsufficiency

Young Jacques , Trabado Severine , Bouligand Jerome , Amazit Larbi , Viengchareun Say , Guiochon-Mantel Anne , Delemer Brigitte , Lombes Marc

Glucocorticoid receptor (GR or NR3C1) is a ligand-dependent transcription factor that plays an essential role in differentiation, development, inflammatory responses and energy balance and is implicated in several human diseases. Eleven germinal GR mutations have been described so far, responsible for glucocorticoid resistance with variable clinical presentation.We report original heterozygous GR mutations in three independent patients, which have been i...

ea0081oc6.3 | Oral Communications 6: Endocrine-Related Cancer | ECE2022

Systematic detection of mosaicism by using digital NGS in a cohort of 119 unresolved MEN1 cases reveals 3 new MEN1 mosaicisms

Lagarde Arnaud , Mougel Gregory , Coppin Lucie , Haissaguerre Magalie , Le Collen Lauriane , Klein Marc , Odou Marie-Francoise , Tabarin Antoine , Brixi Hedia , Delemer Brigitte , Barlier Anne , Romanet Pauline

Context: Mosaicism is a feature of several inherited tumor syndromes but is rarely systematically looked for in routine. MEN1 is an autosomal dominant hereditary syndrome characterized by several endocrine tumors affecting parathyroids, pancreas, and anterior pituitary most of the time, due to inactivating mutations in the MEN1 gene. Few cases of mosaicism in Multiple Endocrine Neoplasia type 1 (MEN1) have been described. MEN1 mosaicism is probably under-diag...

ea0081ep356 | Diabetes, Obesity, Metabolism and Nutrition | ECE2022

A unique family with early-onset, severe obesity and hypopituitarism harboring different POMC pathogenic mutations.

Le Collen Lauriane , Delemer Brigitte , Poitou-Bernert Christine , Martine Vaxillaire , Michel Petit Jean , Alexandru Saveanu , Karine Clement , Philippe Froguel , Amelie Bonnefond

Objective: We describe two first cousins presenting with neonatal corticotropic deficiency and severe, early-onset obesity. This study aims to identify the molecular etiology of these disorders in both cases and highlights the limits of genetic investigations.Methods: We collected the clinical-biological data of the family and, more particularly, of the two first cousins (A and B). We performed several constitutive Next-generation Sequencing (NGS) protoc...

ea0049gp7 | Adrenal 1 | ECE2017

Identification of a new glucocorticoid receptor mutation underscores the substantial prevalence of genetic NR3C1 alterations in adrenal hyperplasia: the French National Research Program MUTA-GR

Vitellius Geraldine , Delemer Brigitte , Caron Philippe , Bennet Antoine , Bouligand Jerome , Guiochon-Mantel Anne , Viengchareun Say , Dani Christian , Trabado Severine , Lombes Marc

Primary generalized glucocorticoid resistance is characterized by glucocorticoid excess without any Cushing syndrome. Patients exhibit variable clinical presentation including arterial hypertension, hirsutism or adrenal hyperplasia. Although glucocorticoid resistance has been associated with glucocorticoid receptor (GR) mutations (encoded by NR3C1 gene), only 23 mutations have been reported so far. We have conducted a French National Research Program, referred to as M...

ea0041ep876 | Pituitary - Clinical | ECE2016

ACRO-POLIS study: differences of symptoms and comorbidities in 472 acromegalic patients according the sex of patients and sources of clinical data

Caron Philippe , Chanson Philippe , Raverot Gerald , Tabarin Antoine , Cailleux Anne , Delemer Brigitte , Renoult Peggy Pierre , Houchard Aude , Cloitre Pauline , Brue Thierry

Introduction: Acromegaly is characterized by excessive secretion of GH and increased IGF-1 levels caused by benign pituitary adenoma. The ACRO-POLIS study describes symptoms and comorbidities of acromegaly at diagnosis in a large cohort of patients diagnosed between 2009 and 2014 in France.Methodology: Observational, cross-sectional, multicentre study included adult patients with acromegaly diagnosed for less than 5 years. Data were collected retrospecti...