Endocrine Abstracts

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....

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...

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...

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 ...

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...

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...

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...

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...

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...

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...