Karger Publishers, Sexual Development, 5-6(11), p. 284-288, 2017
DOI: 10.1159/000485868
Full text: Unavailable
Recently, a heterozygous missense mutation in <i>NR5A1</i>, 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 <i>NR5A1</i> 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.