Artículos de revistas
Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: a case study
Registro en:
Journal Of Applied Genetics. Polish Acad Sciences, Inst Plant Genetics, v. 51, n. 2, n. 223, n. 224, 2010.
1234-1983
WOS:000278115700015
10.1007/BF03195733
Autor
Soardi, FC
Coeli, FB
Maciel-Guerra, AT
Guerra, G
de Mello, MP
Institución
Resumen
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 a p.D293N homozygous mutation in the NR5A1 gene, with normal SRY and no adrenal failure. 51 2 223 224