Abstract
Nonsyndromic SRY-positive testicular 46,XX disorder of sex development (DSD) is most frequently de novo. Affected individuals often have normal male external genitalia and present as adults with infertility, or come to clinical attention after puberty due to signs of undermasculinization. Genital anomalies range from small testes to cryptorchidism, micropenis, and/or hypospadias to presence of both testicular and ovarian tissue (ovotesticular DSD or true hermaphroditism). Diagnosis is typically made by chromosome analysis showing a 46,XX karyotype and metaphase fluorescence in situ hybridization (FISH) demonstrating an SRY signal translocated to a derivative X chromosome.
Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
