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

• Authors: F.C. Soardi , F.B. Coeli , A.T. Maciel-Guerra , G. Guerra-Junior , Mello M.P. de_
• Languages of publication: EN

Abstracts

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.

Keywords

EN

GENE MUTATION; NR5A1 GENE; XY GONADAL DYSGENESIS

Discipline

• GENETICS: GENETICS

• Publisher: Institute of Plant Genetics, Polish Academy of Sciences
• Journal: Journal of Applied Genetics
• Year: 2010
• Volume: 51
• Issue: 2
• Pages: 223-224

Contributors

author

F.C. Soardi

author

F.B. Coeli

author

A.T. Maciel-Guerra

author

G. Guerra-Junior

author

Mello M.P. de_

• Document Type: ARTICLE
• Publication order reference: M. Palandi de Mello, CBMEG-UNICAMP, Caixa Postal 6010, 13083-875 Campinas, SP, Brasil