Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in theNR5A1 gene: a case study
FC Soardi, FB Coeli, AT Maciel-Guerra… - Journal of applied …, 2010 - Springer
Journal of applied genetics, 2010•Springer
The SRY 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 the
NR5A1 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 …
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 the
NR5A1 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 …
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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