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Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in theNR5A1 gene: a case study |
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| Authors: | F C Soardi F Borchers Coeli A T Maciel-Guerra G Guerra-Júnior M Palandi de Mello |
| Institution: | 1. Laboratory of Human Molecular Genetics, Center of Molecular Biology and Genetic Engineering, Campinas State University, Campinas, SP, Brazil 2. Department of Medical Genetics, Faculty of Medical Sciences, Campinas State University, Campinas, SP, Brazil 3. Department of Pediatrics, Faculty of Medical Sciences, Campinas State University, Campinas, SP, Brazil |
| Abstract: | TheSRY gene (sex-determining region on the Y chromosome; MIM *480000) is responsible for initiating male gonadal development. However, only 15–20% of the cases of XY gonadal dysgenesis are due to mutations in its sequence. Recently, heterozygous mutations in theNR5A1 gene (nuclear receptor subfamily 5, group A, member 1; MIM +184757) have been described in association with ovarian failure and disorders of testis development with or without adrenal failure. Here we describe a case of XY complete gonadal dysgenesis due to a p.D293N homozygous mutation in theNR5A1 gene, with normalSRY and no adrenal failure. |
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