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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Soardi, F.C., Coeli, F.B., Maciel-Guerra, A.T. et al. Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in theNR5A1 gene: a case study. J Appl Genet 51, 223–224 (2010). https://doi.org/10.1007/BF03195733
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DOI: https://doi.org/10.1007/BF03195733