hrp0082lbp-d3-1013 | (1) | ESPE2014

Copy Number Determination of CYP21A2 Gene Supplements the Molecular Biological Analysis of Hungarian Patients with 21-Hydroxylase Deficiency

Klara Koncz , Andrea Luczay , Marton Doleschall , Racz Karoly , Attila Patocs , Sallai Agnes , Hosszu Eva , Halasz Zita

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by 21-hydroxylase deficiency in 95% of all cases. This disorder is related to the mutation of CYP21A2 gene that is located in a multiallelic complex called RCCX module showing tandem copy number variation. Molecular genetic analysis of genes located in such region is frequently difficult but the accurate diagnosis of patients suspected with CAH requires a complex molecular analysis.<...

hrp0092fc10.3 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Mutations in the DEAH-box RNA Helicase DHX37 are a Frequent Cause of 46,XY Gonadal Dysgenesis and 46,XY Testicular Regression Syndrome

McElreavey Ken , Jorgensen Anne , Eozenou Caroline , Merel Tiphanie , Bignon-Topalovic Joelle , Tan Daisy , Houzelstein Denis , Buonocore Federica , Warr Nigel , Kay Raissa , Peycelon Mathieu , Siffroi Jean-Pierre , Mazen Inas , Achermann John , Shcherbak Yuliya , Leger Julienne , Sallai Agnes , Carel Jean-Claude , Martinerie Laetitia , Le Ru Romain , Conway Gerald , Mignot Brigitte , Van Maldergem Lionel , Bertalan Rita , Globa Evgenia , Brauner Raja , Jauch Ralf , Nef Serge , Greenfield Andy , Bashamboo Anu

XY individuals with Disorders/Differences of Sex development (DSD) are characterized by reduced androgenization caused, in some children, by gonadal dysgenesis or, more rarely, testis regression during early fetal development. The genetic etiology for most patients with 46,XY gonadal dysgenesis and for all patients with testicular regression syndrome (TRS) is unknown. Identification of novel genes involved in DSD is crucial for providing an accurate clinical diagnosis, aiding ...