Searchable abstracts of presentations at key conferences in endocrinology

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...

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...