Searchable abstracts of presentations at key conferences in endocrinology

ea0063p655 | Interdisciplinary Endocrinology 1 | ECE2019

Meningiomas and hormone therapy: a multicenter, epidemiological, retrospective, uncontrolled study

Lugat Alexandre , Samarut Edouard , Thillays Francois , Buffenoir Kevin , Roualdes Vincent , Cariou Bertrand , Drui Delphine

Meningiomas are the most common intracranial tumors accounting for 20 to 30% of central nervous system tumors. Currently, only two risk factors have been highlighted: the history of exposure (therapeutic or accidental) to ionizing radiation, and some genetic predispositions syndromes in particular Neurofibromatosis type 2. Given the feminine predominance and the presence of progesterone receptors expression in meningiomas, authors began to focus on hormonal factors as a risk f...

ea0063gp55 | Acromegaly and GH | ECE2019

Acromegaly do not increase the risk of vertebral fractures: a retrospective and prospective study on 50 patients

Hochman Clarisse , Plard Charlotte , Le Bras Maelle , Le Goff Benoit , Maugars Yves , Guillot Pascale , Cariou Bertrand , Drui Delphine

Context: Previous studies suggest that patients with acromegaly were at higher risk of vertebral fractures (VFs) despite normal bone mineral density (BMD). However, these patients could have several associated endocrine deficits known to increase the fracture risk, such as hypogonadism. In addition, patients with acromegaly have radiological deformations of the spine, called Erdheim’s syndrome, which can overestimate the radiological VFs.Objective: ...

ea0063p587 | Diabetes, Obesity and Metabolism 2 | ECE2019

Prevalence and characteristics of Nivolumab-induced diabetes: results from a monocentric observational study

Leclerc Helene , Drui Delphine , Mahot-Moreau Pascale , Pichelin Matthieu , Thomare Patrick , Landau Ester , Fournier Anne-Laure , Fronteau Clementine , Dresco Eric , Lucas-Pouliquen Bernadette , Cariou Bertrand

Introduction: Nivolumab is an anti-PD1 immunotherapy that restores the immune response against cancer cells, but can induce fulminant diabetes. The prevalence of such anti-PD1 induced diabetes is not clearly determined, but it has been recently estimated between 0.4% and 0.9% in recent studies. Here, we performed a monocentric epidemiological study in order to assess the prevalence and provide a description of Nivolumab-induced diabetes cases.Material an...

ea0050oc4.1 | Adrenal and Steroids | SFEBES2017

Predicted benign and silent SNPs in CYP11A1 cause primary adrenal insufficiency through missplicing

Maharaj Avinaash , Buonocore Federica , Meimaridou Eirini , Ruiz-Babot Gerard , Guasti Leonardo , Peng Hwei-Ming , Capper Cameron , Prasad Rathi , Crowne Elizabeth , Cheetham Timothy , Brain Caroline , Suntharalingham Jenifer , Striglioni Niccolo , Yuksel Bilgin , Gurbuz Fatih , Auchus Richard , Spoudeas Helen , Guran Tulay , Johnson Stephanie , Fowler Dallas , Duncan Emma , Conwell Louise , Drui Delphine , Cariou Bertrand , Siguero Juan Pedro Lopez , Harris Mark , Donaldson Malcolm , Achermann John , Metherell Lou

Background: CYP11A1 encodes the P450 side chain cleavage enzyme (P450scc) responsible for initiating steroidogenesis and classically gives rise to disordered sex development plus adrenal and gonadal insufficiency. The rs6161 variant in exon 5 of CYP11A1 (c.940G>A; p.E314K) has previously been considered as ‘benign’. When next generation sequencing was performed in patients with primary adrenal insufficiency of unknown etiology the rs6161 variant was foun...

ea0050oc4.1 | Adrenal and Steroids | SFEBES2017

Predicted benign and silent SNPs in CYP11A1 cause primary adrenal insufficiency through missplicing

Maharaj Avinaash , Buonocore Federica , Meimaridou Eirini , Ruiz-Babot Gerard , Guasti Leonardo , Peng Hwei-Ming , Capper Cameron , Prasad Rathi , Crowne Elizabeth , Cheetham Timothy , Brain Caroline , Suntharalingham Jenifer , Striglioni Niccolo , Yuksel Bilgin , Gurbuz Fatih , Auchus Richard , Spoudeas Helen , Guran Tulay , Johnson Stephanie , Fowler Dallas , Duncan Emma , Conwell Louise , Drui Delphine , Cariou Bertrand , Siguero Juan Pedro Lopez , Harris Mark , Donaldson Malcolm , Achermann John , Metherell Lou

Background: CYP11A1 encodes the P450 side chain cleavage enzyme (P450scc) responsible for initiating steroidogenesis and classically gives rise to disordered sex development plus adrenal and gonadal insufficiency. The rs6161 variant in exon 5 of CYP11A1 (c.940G>A; p.E314K) has previously been considered as ‘benign’. When next generation sequencing was performed in patients with primary adrenal insufficiency of unknown etiology the rs6161 variant was foun...

ea0063gp214 | Gestational and Type 1 Diabetes | ECE2019

Association between sleep disturbances and fear of hypoglycemia in adults with type 1 diabetes, data from VARDIA Study

Suteau Valentine , Saulnier Pierre-Jean , Wargny Matthieu , Gand Elise , Chaillous Lucy , Dubois Severine , Allix Ingrid , Bonnet Fabrice , Leguerrier Anne-Marie , Fradet Gerard , Crespin Isabelle Delcourt , Kerlan Veronique , Gouet Didier , Perlemoine Caroline , Ducluzeau Pierre-Henri , Pichelin Matthieu , Gonder-Frederic Linda , Ragot Stephanie , Hadjhadj Samy , Cariou Bertrand , Briet Claire

Aims: To assess the relationship between sleep quality and fear of hypoglycemia, glycemic variability and other diabetes-related outcomes in type 1 diabetes.Methods: Our data were provided by the VARDIA Study, a multicentric observational cross-sectional study conducted between June and December 2015. Sleep characteristics were assessed by Pittsburgh Sleep Quality Index (PQ1I). Fear of hypoglycemia was measured with the Hypoglycemia Fear Survey version I...

ea0063oc5.1 | Adrenal 1 | ECE2019

Positive impact of genetic test on the management and outcome of patients with paraganglioma and/or pheochromocytoma

Buffet Alexandre , Aim Laurene Ben , Leboulleux Sophie , Drui Delphine , Vezzosi Delphine , Libe Rossella , Ajzenberg Christiane , Bernardeschi Daniele , Cariou Bertrand , Chabolle Frederic , Chabre Olivier , Darrouzet Vincent , Delemer Brigitte , Desailloud Rachel , Goichot Bernard , Esvant Annabelle , Offredo Lucile , Herman Philippe , Laboureau Sandrine , Lefebvre Herve , Pierre Peggy , Raingeard Isabelle , Reznik Yves , Sadoul Jean-Louis , Hadoux Julien , Tabarin Antoine , Tauveron Igor , Zenaty Delphine , Favier Judith , Bertherat Jerome , Baudin Eric , Amar Laurence , Gimenez-Roqueplo Anne-Paule

Context: Paragangliomas and pheochromocytomas (PPGL) are rare neuroendocrine tumors, characterized by a strong genetic component. Indeed, up to 40% of patients carry a germline mutation in a PPGL susceptibility gene. In accordance with the international recommendations, genotyping of PPGL susceptibility genes is therefore proposed to all patients with PPGL, but it has actually never been shown whether the identification of a germline mutation in one PPGL susceptibility gene ch...