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

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Soardi F. C., Coeli F. B., Maciel-Guerra A. T., Guerra-Junior G., de_ M. M. P.
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vol. 51
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issue 2
223-224
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.
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