A Follow-Up from Infancy to Puberty in a Japanese Male with < b > < i > SRY < /i > < /b > -Negative 46,XX Testicular Disorder of Sex Development Carrying a p.Arg92Trp Mutation in < b > < i > NR5A1 < /i > < /b >

We report the clinical course from infancy to puberty in a Japanese male withSRY-negative 46,XX testicular DSD, carrying this p.Arg92Trp mutation inNR5A1. The patient naturally acquired the development of a penis and pubic hair during puberty. However, hypergonadotropic hypogonadism subsequently developed. More clinical cases will be needed to fully understand the effects of the p.Arg92Trp mutation on the ability to maintain testosterone secretion in 46,XX testicular DSD.Sex Dev
Source: Sexual Development - Category: Biology Source Type: research