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Journal of Applied Genetics 51(2), 2010, pp. 223-224

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

F. C. Soardi, F. Borchers Coeli, A. T. Maciel-Guerra, G. Guerra-Junior, M. Palandi de Mello

Abstract: 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.

Key words: gene mutations, NR5A1 gene, XY gonadal dysgenesis

Correspondence: M. Palandi de Mello, CBMEG-UNICAMP, Caixa Postal 6010, 13083-875 Campinas, SP, Brasil; e-mail:

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