Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: a case study

• Autorzy: F.C. Soardi , F.B. Coeli , A.T. Maciel-Guerra , G. Guerra-Junior , Mello M.P. de_
• Języki publikacji: EN

Abstrakty

EN

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.

Słowa kluczowe

EN

GENE MUTATION; NR5A1 GENE; XY GONADAL DYSGENESIS

• Czasopismo: Journal of Applied Genetics
• Rocznik: 2010
• Tom: 51
• Numer: 2
• Strony: 223-224

Twórcy

autor

F.C. Soardi

autor

F.B. Coeli

autor

A.T. Maciel-Guerra

autor

G. Guerra-Junior

autor

Mello M.P. de_

• Typ dokumentu: ARTICLE
• Bibliografia: M. Palandi de Mello, CBMEG-UNICAMP, Caixa Postal 6010, 13083-875 Campinas, SP, Brasil