Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in theNR5A1 gene: a case study
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.
Keywordsgene mutations NR5A1 gene XY gonadal dysgenesis
- Köhler B, Lin L, Mazen I, Cetindag C, Biebermann H, Akkurt I, et al. 2009. The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5 A1, Ad4BP) includes severe penoscrotal hypospadias in 46,X Y males without adrenal insufficiency. Eur J Endocrinol 161: 237–242. DOI: 10.1530/EJE-09-0067.CrossRefPubMedGoogle Scholar