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ey0018.6-2 | Basic and Genetic Research of DSD | ESPEYB18

6.2. Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene

C Eozenou , N Gonen , MS Touzon , A Jorgensen , SA Yatsenko , L Fusee , AK Kamel , B Gellen , G Guercio , P Singh , S Witchel , AJ Berman , R Mainpal , M Totonchi , A Mohseni Meybodi , M Askari , T Merel-Chali , J Bignon-Topalovic , R Migale , M Costanzo , R Marino , P Ramirez

Proc Natl Acad Sci USA. 2020 Jun 16;117(24):1368013688. 10.1073/pnas.1921676117. PMID: 32493750.On the search for a genetic cause for 46,XX virilization due to testicular (TDSD) or ovotesticular DSD (OTDSD), 78 individuals were studied by whole exome sequencing. In 7 cases, heterozygous de novo variants were found in the 4th zinc finger (ZF4) of the Wilms tumor 1 gene (<em...

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ey0019.6-6 | Basic and Genetic Research of DSD | ESPEYB19

6.6. Expanding DSD phenotypes associated with variants in the DEAH-box RNA helicase DHX37

H Zidoune , L Martinerie , DS Tan , M Askari , D Rezgoune , A Ladjouze , A Boukri , Y Benelmadani , K Sifi , N Abadi , D Satta , M Rastari , M Seresht-Ahmadi , J Bignon-Topalovic , I Mazen , J Leger , D Simon , R Brauner , M Totonchi , R Jauch , A Bashamboo , K McElreavey

Sex Dev. 2021;15(4):244-252. PMID: 34293745, doi: 10.1159/000515924.Brief Summary: This genetic study provides data of a large cohort of 140 patients with DSD who were screened for DHX37 variants.DHX37 emerges as a frequent cause of nonsyndromic 46,XY gonadal dysgenesis, and 46,XY testicular regression syndrome. Since the first description of the gene (1), <...

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ESPE Yearbook of Paediatric Endocrinology

6.2. Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene

6.6. Expanding DSD phenotypes associated with variants in the DEAH-box RNA helicase DHX37

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