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ea0039oc7.1 | Oral Communications 7 | BSPED2015

Wolfram syndrome: natural history and genotype-phenotype correlation based on EURO-WABB registry show gender differences in disease severity

Dias Renuka , Richens Caitlin , Astuti Dewi , Nightingale Peter , Ayme Segolene , Lopez de Heredia Miguel , Maffei Pietro , McCafferty Susan , Mlynarski Wojciech , Nunes Virginia , Parkinson Kay , Paquis-Flucklinge Veronique , Rohayem Julia , Sinnott Richard , Tillmann Vallo , Tranebjaerg Lisbeth , Barrett Timothy

Background: Wolfram syndrome (WS) is a rare autosomal recessive disorder, characterised by early-onset diabetes and optic atrophy. It is caused by mutations in WFS1.Objective and hypotheses: This study aimed to comprehensively review the natural history of WS in a large cohort of patients from the EURO-WABB registry.Method: Data from EURO-WABB patients with WS was analysed in conjunction with the Leiden Open Variation Data...

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ea0073pep4.8 | Presented ePosters 4: Reproductive and Developmental Endocrinology | ECE2021

Current clinical practice of prenatal dexamethasone treatment in at risk pregnancies for classic 21‑hydroxylase deficiency in Europe

Nowotny Hanna F. , Blankenstein Oliver , Neumann Uta , Ahmed S. Faisal , Allen Stephanie , Baronio Federico , Battelino Tadej , Bertherat Jérôme , Bonomi Marco , de la Perrière Aude Brac , Tardy Véronique , Brucker Sara , Cappa Marco , Chanson Philippe , Bouvattier Claire , Colao Annamaria , Cools Martine , Davies Justin , Fenske Wiebke K. , Ghigo Ezio , Højbjerg Gravholt Claus , Hübner Angela , Husebye Eystein Sverre , Juul Anders , Kiefer Florian W. , Léger Juliane , Meyer Gesine , Phylactou Leonidas A. , Rohayem Julia , Russo Gianni , Scaroni Carla , Touraine Philippe , Unger Nicole , Hedi L. Claahsen-van der Grinten , Vojtková Jarmila , Yeste Diego , Günther Dörr Helmut , Lajic Svetlana , Reisch Nicole

BackgroundPrenatal dexamethasone treatment (Pdex) has been used since the 1980s to prevent virilization in female offspring suspected to have congenital adrenal hyperplasia (CAH). However, due to lack of strong evidence for its best practice as well as limited data regarding longterm adverse effects, use of dex is highly controversial. This study reveals the current medical practice regarding Pdex in female fetuses at risk of CAH due to 21hydroxylase def...

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Endocrine Abstracts

Wolfram syndrome: natural history and genotype-phenotype correlation based on EURO-WABB registry show gender differences in disease severity

Current clinical practice of prenatal dexamethasone treatment in at risk pregnancies for classic 21‑hydroxylase deficiency in Europe

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