5-alpha Reductase Deficiency

Children with 5-alpha reductase deficiency are genetically male (with one X and one Y chromosome and male gonads—testes). But their bodies develop with what are called “ambiguous genitalia,” not clearly male or female.

Children with this condition are often raised as female. However, upon puberty when male hormones increase, these children develop larger muscles, their voice deepens, pubic hair grows, and the sex organs increase in size. Some individuals then adopt male gender roles upon adolescence.

Most individuals with this condition cannot have children without assisted reproduction.