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: ...

ea0063gp17 | Calcium and Bone 1 | ECE2019

Utility of a second technecium99mMIBI-SPECT imaging before re-operating in patients with persistent sporadic primary hyperparathyroidism: results of a retrospective multicentric study

Frey Samuel , Couette Clement , Tresallet Christophe , Hamy Antoine , Caillard Cecile , Blanchard Claire , Lhermite Emilie , Menegaux Fabrice , Drui Delphine , Ansquer Catherine , Mirallie Eric

Introduction: Persistent primary hyperparathyroidism (pHPT) occurs in 2.5 to 15% of cases after parathyroidectomy. Pre-operative localization studies (usually 99mTc-MIBI and cervical ultrasonography (US)) allow focused surgical approach (unilateral neck exploration or minimally invasive parathyroidectomy). Few studies have evaluated the best pre-reoperative approaches in case of persistent sporadic pHPT. The aim of our study is to evaluate the value of a second pre-...

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...

ea0070aep785 | Reproductive and Developmental Endocrinology | ECE2020

Structural analysis of the impact of a novel androgen receptor gene mutation in two adult patients with mild androgen insensitivity syndrome

Hage Mirella , Drui Delphine , Ecomard Marie-Adèle , Mercier Sandra , Guiochon-Mantel Anne , Belaisch-Allart Joelle , Cazabat Laure , De Mazancourt Philippe , Raffin-Sanson Marie-Laure

Context: Androgen insensitivity syndrome (AIS) is a rare X-linked recessive disordercaused by mutations in the androgen receptor (AR) gene resulting in variable target tissue resistance to androgen action. The underlying molecular defect causes a spectrum of androgen dysfunction ranging from gynecomastia and/or infertility in mild AIS (MAIS) to variable degrees of ambiguous or undermasculinized genitalia in partial AIS to complete testicular feminization in complete A...

ea0063p374 | Thyroid 1 | ECE2019

Impact of total thyroidectomy on quality of life: the prospective ThyrQoL multicenter trial

Borel Frederic , Mirallie Eric , Tresallet Christophe , Hamy Antoine , Mathonnet Muriel , Lifante Jean-Christophe , Brunaud Laurent , Marret Olivier , Caillard Cecile , Espitalier Florent , Menegaux Fabrice , Drui Delphine , Hardouin Jean-Benoit , Blanchard Claire

Introduction: Health-related Quality of Life (HR-QoL) is usually impaired in patients with thyroid diseases compared to the general population. Thyroidectomy is largely performed in case of benign thyroid disease, and can be associated with severe long-term complications: vocal cord palsy (VCP), hypoparathyroidism. Our goal was to report the long-term HR-QoL outcomes after thyroidectomy using the MOS 36-item short form health survey (SF-36) self-questionnaire.<p class="abs...

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...

ea0063p1017 | Interdisciplinary Endocrinology 2 | ECE2019

Diagnosis announcement procedure in rare endocrine diseases: a survey of the French National Healthcare Network for Rare Endocrine Diseases (FIRENDO)

Layachi-Rahabi Haifa , Givony Maria , Demaret Beatrice , Brun Philippe , Aubron Marie-Reine , Bartes Beate , Bernard Lucie , Victor Amelie , Dujardin Veronique , Lancon Catherine , Perrotin Benedicte , Picard Virginie , Bouazza Naim , Abdoul Hendy , Malivoir Sabine , Ribeiro Murielle , Netchine Irene , Drui Delphine , Reynaud Rachel , Tardy Guidollet Veronique , Bertherat Jerome , Colin Claudine , Brue Thierry

Context: Diagnosis announcement of a chronic disease is a crucial moment for patients as well as for their families and an important step of the management of severe conditions like rare endocrine diseases. It is considered as an ‘eternal minute’, marking the end of a time of life when the disease was absent. Little is known on how diagnosis is communicated to patients and families. FIRENDO as defined by the National Plan for Rare Diseases aims at promoting education...

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...