Searchable abstracts of presentations at key conferences in endocrinology

ea0020p672 | Steroid Receptors | ECE2009

ACTH-independent Cushing’s syndrome in pregnancy with normal adrenal glands: ectopic receptors to chorionic gonadotrophin hormone (HCG)?

Florence Baudoux , Fabrice Devemy , Clara Leroy , Anne-Sophie Valat , Frederique Faivre-Defrance , Marie-Christine Vantyghem

Cushing’s syndrome during pregnancy is a rare disorder. A 32-year-old pregnant woman presented with Cushing’s syndrome. She had had a medical abortion complicated with bleeding for anencephaly by 15 weeks of her first pregnancy. At the beginning of her second pregnancy, typical clinical signs of Cushing syndrome developed: extensive red stretch marks on the abdomen and thighs, excessive weight gain (24 kg over 17 weeks) and high blood pressure (150/90 mmHg). By week ...

ea0056p478 | Diabetes therapy | ECE2018

Preservation of residual β-insulin function in a patient with a type 1 diabetes treated early by fingolimod for multiple sclerosis

Benderradji Hamza , Kwapich Maxime , Bouzaib Samira , Ythier Hubert , Zephir Helene , Leroy Clara

Introduction: Type 1 diabetes (T1D) and multiple sclerosis (MS) are autoimmune diseases with common immunological mechanisms. Type 1 diabetics have an increased risk of MS. The aim of this work is to report a clinical observation of a partial preservation of β-cell function in a type 1 diabetic patient treated early by Fingolimod for MS.Observation: A polyuro-polydipsic syndrome and a weight loss of 10 kg led to the diagnosis of T1D (typing HLA DR4/...

ea0035p144 | Calcium and Vitamin D metabolism | ECE2014

Recurrent post-surgical hyperparathyroidism: think of CYP 24A1 mutations!

Loyer Camille , Leroy Clara , Huglo Damien , Boury Samuel , Molin Arnaud , Kottler Marie-Laure , Pattou Francois , Vantyghem Marie-Christine

CYP24A1 gene encodes 24-hydroxylase that inactivates 1-25-OHvitaminD. Mutations induce infantile hypercalcemia, with high 1-25-OHvitaminD, contrasting with low PTH levels. Adult phenotypes are not well known yet. We report two cases of post-surgical persistent hypercalcemia, related to CYP24A1 mutations. Two unrelated patients, a 40-year-old female (#1) and 54-year old male (#2), were referred for nephrolithiasis, enthesis and hypertension in both, associated...

ea0070aep846 | Reproductive and Developmental Endocrinology | ECE2020

Gonadal dysfunction is associated with severity of disease in men with myotonic dystrophy type 1

hoth guechot Hélène , Humbert Linda , Kohler Florence , Leroy Clara , Robin Geoffroy , Vantyghem Marie-Christine

Background: The myotonic dystrophy type 1 (DM1) or Steinert disease is the most common inherited, autosomal dominant neuromuscular disorder in adult. The gonadal dysfunction has been known for many years in DM1 men with description of bilateral testicular atrophy but the factors influencing the different profiles of gonadal dysfunction, and their natural evolution are not clearly established. The purpose of this study was to determine the profiles of gonadal function on men af...

ea0037gp.10.10 | Calcium, Vitamin D and Bone | ECE2015

Phenotype–genotype correlation in a series of 131 patients studied for calcium-sensing receptor gene

Vahe Claire , Odou Marie-Francoise , Desailloud Rachel , Leroy Clara , Bauters Catherine , Scherpereel Arnaud , Pattou Francois , Carnaille Bruno , Wemeau Jean-Louis , Vantyghem Marie-Christine

Calcium-sensing receptor gene (CASR) loss-of-function mutations lead to familial hypocalciuric hypercalcaemia (FHH), neonatal severe hyperparathyroidism, and primary hyperparathyroidism. FFH is characterized by mild hypercalcaemia, hypocalciuria, calcium clearance/creatinine clearance (CaCl/CrCl) <0.01, normal or high PTH level. Nevertheless the phenotype may vary (Thakker 2012). The aim of this work was to compare the phenotypes of patients bearing or not a pathogenic <em...

ea0035oc11.5 | Diabetes and Obesity 2 | ECE2014

Lipodystophic laminopathies are characterised by an increased intra/whole abdominal fat ratio with preserved fat/lean mass ratio and hypoleptinemia, in contrast with obese people, compared to controls

Le Mapihan Kristell , Leroy Clara , Ernst Olivier , Vigouroux Corinne , Lion Georges , Le Guillou Anne-Claire , Quintin Delphine , Douillard Claire , Vantyghem Marie-Christine

Introduction: The diagnosis of non-HIV lipodystrophies is challenging, especially since borderline forms with type 2 diabetes have been described (Strickland Diabetes Care 2013).Objective: To identify the most specific anthropometric and biological parameters enabling to differentiate lipodystrophic from obese and control subjects.Methods: This prospective study ( 2009-AO-1169-48) included 94 patients divided in 3 groups ad...

ea0032p557 | Endocrine tumours and neoplasia | ECE2013

Aggressive adreno-cortical carcinoma (ACC) associated with two rectal tumors (adenocarcinoma and neuro-endocrine) and somatic Kras mutation without microsatellite instability: is there a link?

Leroy Clara , DoCao Christine , Karrouz Wassila , Le Guillou Anne-Claire , Derveaux Alexandra , Buisine Marie-Pierre , Perbet R , Leteurtre Emmanuelle , Caiazzo Robert , Pattou Francois , Vantyghem Marie-Christine

Aggressive adreno-cortical carcinoma (ACC) is a rare, aggressive malignancy, with poorly understood molecular pathogenesis. As a result, therapeutic options are currently limited, surgery being currently the lone curative modality. Most cases of ACC are sporadic, although some familial cancer syndromes (Li–Fraumeni, Beckwith–Wiedemann, MEN1, Carney complex, congenital adrenal hyperplasia, etc.) are associated with an increased incidence of ACC. The genes involved in ...

ea0081p182 | Reproductive and Developmental Endocrinology | ECE2022

Defining reference ranges for serum anti-Müllerian hormone (AMH) on a large cohort of normozoospermic adult men highlights new potential physiological functions of AMH on FSH secretion and sperm motility

Benderradji Hamza , Anne-Laure Barbotin , Maryse Leroy-Billiard , Julie Prasivoravong , Francois Marcelli , Christine Decanter , Geoffroy Robin , Valerie Mitchell , Jean-Marc Rigot , Antonino Bongiovanni , Florent Sauve , Luc Buee , Claude-Alain Maurage , Maryse Cartigny , Arnauld Villers , Vincent Prevot , Sophie Catteau-Jonard , Nicolas Sergeant , Paolo Giacobini , Pascal Pigny , Clara Leroy

Background: Few studies to date have attempted to measure serum anti-Müllerian hormone (AMH) levels in adult men, and solid references ranges have not yet been defined on a large cohort.Objective: In this study, we aimed to first establish the reference ranges for serum AMH and AMH-to-total testosterone ratio (AMH/tT) in adult males. Secondly, we investigated the relationship between serum AMH and both reproductive hormones and semen parameters....