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

We report a sibling pair with 46,XX DSD due to anNR5A1 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 father of the patients showed oligozoospermia with the p.R92W mutation, suggesting that in 46,XY individuals, the mutation would cause various gonadal phenotypes. We review and discuss the general role of the R92W mutation in sexual development.Sex Dev 2017;11:284-288

Source: Sexual Development - January 23, 2018 Category: Biology Source Type: research