Searchable abstracts of presentations at key conferences in endocrinology

ea0067o20 | Oral Presentations | EYES2019

Phenotype of patients carrying the c.709(-7-2)del PRKAR1A mutation in a large cohort of 40 patients

Abderrahmane Fatimetou , Raverot Gerald , Lefebvre Herve , Cardot-Bauters Catherine , Vantyghem Marie-Christine , Bertherat Jerome , Espiard Stephanie

Objective: To describe the Carney Complex (CNC) manifestations presented by patients harboring the PRKAR1A mutation c.709(-7-2)del (one of the three hotspots) in a large cohort of patients.Methods: Multicenter retrospective study. Age at the diagnosis or at the screening of the different CNC manifestations is described by mean ± standard deviation.Results: Forty patients [12 index cases, 27 females, 46±15 years o...

ea0063gp151 | Interdisciplinary Endocrinology 1 | ECE2019

MEN4: is there a link with autoimmunity?

Chevalier Benjamin , Odou Marie-Francoise , Demonchy Jordane , Cardot-Bauters Catherine , Vantyghem Marie-Christine

MEN4 is a rare disease characterized by the development of multiple endocrine tumors caused by mutations in the CDKN1b gene encoding the cyclin dependent kinase inhibitor P27Kip1. Here we report two new cases and address the potential link of MEN4 with autoimmunity. The 1st patient, a 66-year old woman, presented at 35 years high prolactin levels without evidence of pituitary adenoma, treated medically. At 51 years, she was diagnosed with mild primary hyper...

ea0041ep6 | Adrenal cortex (to include Cushing's) | ECE2016

Bilateral adrenalectomy is a safe long-term procedure

Coralie Moutarde , Robert Caiazzo , Catherine Bauters , Christine Cortet , Christine Do Cao , Jean-Louis Wemeau , Francois Pattou , Marie-Christine Vantyghem

The aim of this retrospective study was to compare the long-term evolution of adrenal insufficiency (AI) due to bilateral adrenal surgery (S) or medical cause (M).Seventy AI patients (mean age 41±16 years; 60% female, similar in both groups) were followed during a mean 6-year period (2–16); 38 were AI after bilateral adrenalectomy (60% Cushing), 32 AI of medical origin (62% polyglandular autoimmune syndrome). BMI, blood pressure (BP), fasting b...

ea0020p190 | Endocrine tumours and neoplasia | ECE2009

Serum chromogranin A assay in the biological diagnosis of pheochromocytomas and/or paragangliomas: results in 146 patients

d'Herbomez Michele , Bauters Catherine , Caron Philippe , Do Cao Christine , Pigny Pascal , Leteurtre Emmanuelle , Carnaille Bruno , Wemeau Jean-Louis

The biological diagnosis of pheochromocytoma (P) and/or paraganglioma (Pgg) relies on the identification of excessive secretion of the metanephrines. Chomogranin A (CgA) is a general indicator of neuroendocrine tumours that is highly expressed in P and correlate with tumour mass and secretory activity. The CgA test could be indicated as a useful test in patients with false positive metanephrines results. The aim of our prospective bi-centre study, is to evaluate the performanc...

ea0041ep21 | Adrenal cortex (to include Cushing's) | ECE2016

Long-term metabolic evolution of a cohort of patients treated for adrenal insufficiency

Coralie Moutarde , Claire Douillard , Catherine Bauters , Christine Cortet , Christine Do Cao , Laurence Leclerc , Emilie Merlen , Pascal Pigny , Jean-Louis Wemeau , Marie-Christine Vantyghem

The aim of this retrospective study was to compare the long-term metabolic evolution of a cohort of patients treated for adrenal insufficiency (AI), and the best biological parameters of a good balance.Seventy patients with AI (mean age 41 years (±16); 60% female) were followed during a median 6-year period (2–16 years): 38 after bilateral adrenalectomy (60% Cushing) and 32 after AI of medical origin (62% polyglandular autoimmune syndrome). BMI...

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...

ea0016oc4.7 | Bone and adrenal | ECE2008

Molecular analysis of the calcium sensing receptor (CaSR) gene in 40 patients suspected to have familial hypocalciuric hypercalcemia (FHH)

Defrance-Faivre Frederique , Odou Marie-Francoise , Porchet Nicole , Weill Jacques , Guedj Am , Cardot-Bauters Catherine , Wemeau Jean-Louis , Vantyghem Marie-Christine

Neonatal severe hyperparathyroidism (NSHPTH) and FHH, usually defined as a ratio of calcium clearance/creatinin clearance <0.01 with normal kidney function and vitamin D status, are caused by respectively heterozygote and homozygote inactivating mutations of the CaSR gene. The aim of this study was to assess the interest of analyzing CaSR in hypercalcalcemic subjects suspected to have FHH.Patients and methods: Forty hypercalcaemic subjects fro...

ea0014p101 | (1) | ECE2007

Cigarette smoking increases high calcitonin levels

d’Herbomez Michele , Bauters Catherine , Leclerc Laurence , Leteurtre Emmanuelle , Carnaille Bruno , Schlienger Jean-Louis , Caron Philippe , Wémeau Jean-Louis

Increased basal or pentagastrin-stimulated calcitonin level is the cornerstone for the biological diagnosis of medullary thyroid carcinoma, but is also observed in patients with C-cell hyperplasia (CCH) of the thyroid. In a prospective multicenter study we re-evaluated the reference ranges of basal calcitonin (bCT) in 287 euthyroid controls without thyroid disease (142 men-45 smokers, 3 deprived, 145 women-27 smokers). The CT levels were measured using 2 different assays (Cis-...

ea0049gp120 | Endocrine Tumours | ECE2017

Evaluation of the occurrence of the manifestations of Carney complex in a french cohort of 70 patients during a three years standardized follow-up

Espiard Stephanie , Cardot-Bauters Catherine , Raverot Gerald , Nunes Marie-Laure , Brucker-Davis Francoise , Houang Muriel , Archambeaud-Mouveroux Francoise , Lienhardt Anne , Lefebvre Herve , Chabre Olivier , Tabarin Antoine , Vantyghem Marie-Christine , Bertherat Jerome

Introduction: The Carney Complex is a multiple endocrine and non endocrine neoplasia mostly due to PRKAR1A mutations. Spectrum of manifestations and genotype-phenotype correlations have been previously described by retrospective studies. A prospective study evaluating the occurrence of the different manifestations was needed to precise the optimum follow-up.Methods: Multi-center national prospective study (Clinical Trials NCT00668291) including 70 patien...

ea0063oc7.5 | Endocrine Connections 1 | ECE2019

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) syndrome: French prospective study in a cohort of 25 patients

Humbert Linda , Dubucquoi Sylvain , Kemp Helen , Veber Pascale Saugier , Fabien Nicole , Top Isabelle Raymond , Bauters Catherine Cardot , Cartigny Maryse , Delemer Brigitte , Docao Christine , Penfornis Alfred , Guignat Laurence , Kerlan Veronique , Lefevbre Herve , Chabre Olivier , Vanhove Laura , Sendid Boualem , Carel Jean-Claude , Souchon Perre-Francois , Weil Jacques , Vantyghem Marie-Christine , Wemeau Jean-Louis , Proust-Lemoine Emmanuelle

Background: APECED syndrome is a rare monogenic disease caused by homozygous mutation of AIRE gene. It classically presents with chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HP), and adrenal insufficiency (AI) with an early onset in childhood. Non-endocrine manifestations as ectodermic dystrophy, asplenism and pneumonitis are also observed but their incidence remains unknown and their mechanisms not well understood. APECED has been poorly reported in France alt...