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2010 | 51 | 2 | 223-224
Article title

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

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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.
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Publisher

Year
Volume
51
Issue
2
Pages
223-224
Physical description
Contributors
References
Document Type
ARTICLE
Publication order reference
M. Palandi de Mello, CBMEG-UNICAMP, Caixa Postal 6010, 13083-875 Campinas, SP, Brasil
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YADDA identifier
bwmeta1.element.element-from-psjc-a1b73e6b-f388-3863-93a7-e705f0285166
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