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Phenotypic Variation in 46,XX Disorders of Sex Development due to the NR5A1 p.R92W Variant: A Sibling Case Report and Literature Review.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - 1 Jan 2017

Takasawa Kei, Igarashi Maki, Ono Makoto, Takemoto Akira, Takada Shuji, Yamataka Atsuyuki, Ogata Tsutomu, Morio Tomohiro, Fukami Maki, Kashimada Kenichi

Abstract excerpt

Recently, a heterozygous missense mutation in NR5A1, p.R92W, was identified as a cause of 46,XX testicular/ovo-testicular disorders of sexual development (DSD). We report a sibling pair with 46,XX DSD due to an NR5A1 mutation with distinct phenotypes, including external and internal genitalia and gonads, for whom different rearing sexes were selected. Thus, the phenotypes of p.R92W vary, even within a family. The...

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PMID: 29393271
DOI: 10.1159/000485868

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