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21st European Congress of Endocrinology

Lyon, France
18 May 2019 - 21 May 2019

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18-21 May 2019, Lyon, France

ea0063oc10.1 | Adrenal 2 | ECE2019

Steroid metabolomics: a rapid computational approach for accurate differentiation of inborn disorders of steroidogenesis

Baranowski Elizabeth S , Ghosh Sreejita , Shackleton Cedric HL , Taylor Angela E , Hughes Beverly A , Gilligan Lorna C , Utari Agustini , Faradz Sultana MH , van Herwaarden Antonius E , Claahsen-van der Grinten Hedi L , Biehl Michael , Guran Tulay , Bunte Kerstin , Tino Peter , Arlt Wiebke

Background: Measurement of steroid metabolite excretion in urine by gas chromatography-mass spectrometry (GC-MS) provides a comprehensive profile of an individualÂ’s adrenal and gonadal steroid production. It has long been acknowledged as a useful tool for diagnosis of inborn disorders of steroidogenesis leading to congenital adrenal hyperplasia and disorders of sex development. Ratios of steroid metabolites can be employed as surrogates for enzymatic activities of distinc...

ea0063oc10.2 | Adrenal 2 | ECE2019

Glucocorticoid resistance patients exhibit defective cortisol metabolism, responsible for functional hypermineralocorticism

Vitellius Geraldine , Delemer Brigitte , Chabre Olivier , Caron Philippe , Pussard Eric , Bouligand Jerome , Trabado Severine , Lombes Marc

Glucocorticoid resistance syndrome, a rare genetic disease, is often associated with glucocorticoid receptor (GR) loss-of-function mutations. Six patients carrying heterozygous mutations of NR3C1 gene encoding GR, either missense R477S, Q501H, L672P or non-sense R469X, R491X, Y660X mutations were studied. Surprisingly, NR3C1 mutation carriers presented with low kalemia, low plasma renin and aldosterone levels associated or not with arterial hypertension, cons...

ea0063oc10.3 | Adrenal 2 | ECE2019

Genetic predisposition to Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH): next generation sequencing ARMC5, NR3C1 (glucocorticoid receptor) and PDE11A4 (phosphodiesterase 11) in 389 patients

Vaczlavik Anna , Vaduva Patricia , Bouys Lucas , Neou Mario , Septier Amandine , Heurtier Victor , Libe Rossella , Kroiss Matthias , Borson-Chazot Francoise , Chanson Philippe , Vanthyghem Marie-Christine , Tabarin Antoine , Assie Guillaume , Stratakis Constantine , Fragoso Maria , Ragazzon Bruno , Bertherat Jerome

Introduction: PBMAH is an heterogeneous disease from the clinical, hormonal, and morphological point of view. ARMC5 inactivating mutations have been reported as a cause of PBMAH. PDE11A4 variants have been associated with PBMAH and NR3C1 variants with bilateral adrenal incidentalomas.Aim: To analyse the frequency of ARMC5 pathogenic mutations and PDE11A4 and NR3C1 variants in PBMAH patients.<p cla...

ea0063oc10.4 | Adrenal 2 | ECE2019

Cullin 3 is a partner of armadillo repeat containing 5 (ARMC5), the product of the gene responsible for primary bilateral macronodular adrenal hyperplasia

Cavalcante Isadora , Vaczlavik Anna , Drougat Ludivine , Lotfi Claudimara , Fragoso Maria , Clauser Eric , Rizk-Rabin Marthe , Bertherat Jerome , Ragazzon Bruno

Background: Germline mutations of ARMC5 (Armadillo repeat containing 5 gene) were identified as a frequent cause of primary bilateral macronodular adrenal hyperplasia (PBMAH). ARMC5 is considered as a tumor suppressor gene regulating apoptosis and steroidogenesis by unknown mechanisms. The ARMC5 protein contains a N-terminal domain made of Armadillo (ARM) repeats and a C-terminal ‘Bric-a-Brac, Tramtrack, Broad-complex/Pox virus and Zinc finger (BTB/POZ)&...

ea0063oc10.5 | Adrenal 2 | ECE2019

Cyclin dependent kinase 4 as promising drug target in adrenocortical carcinoma

Liang Raimunde , Weigand Isabel , Sbiera Silviu , Kircher Stefan , Lippert Juliane , Altieri Barbara , Steinhauer Sonja , Hantel Constanze , Rost Simone , Rosenwald Andreas , Kroiss Matthias , Fassnacht Martin , Ronchi Cristina

Adrenocortical carcinomas (ACC) are associated with heterogeneous prognosis and limited treatment options for advanced stages. Until now no efficient targeted therapies have been identified. This study aims to identify possible new molecular drug targets for a future personalized therapeutic approach. RNA was isolated from 40 formalin-fixed paraffin-embedded tumor samples from ACC patients (26F&14M, median age 46 yrs) with known genetic background (Lippert et al. JCEM ...