Article
Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - 1 Jan 2021
Zidoune Housna, Martinerie Laetitia, Tan Daisylyn S, Askari Masomeh, Rezgoune Djalila, Ladjouze Asmahane, Boukri Asma, Benelmadani Yasmina, Sifi Karima, Abadi Noureddine, Satta Dalila, Rastari Mandana, Seresht-Ahmadi Mehrshad, Bignon-Topalovic Joelle, Mazen Inas, Leger Juliane, Simon Dominique, Brauner Raja, Totonchi Mehdi, Jauch Ralf, Bashamboo Anu, McElreavey Kenneth
Abstract excerpt
Missense variants in the RNA-helicase DHX37 are associated with either 46,XY gonadal dysgenesis or 46,XY testicular regression syndrome (TRS). DHX37 is required for ribosome biogenesis, and this subgroup of XY DSD is a new human ribosomopathy. In a cohort of 140 individuals with 46,XY DSD, we identified 7 children with either 46,XY complete gonadal dysgenesis or 46,XY TRS carrying rare or novel DHX37 variants. A...
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