46,XX differences of sex development
XX testicular difference of sex development affects about 1 in 20,000 males.
Conditions including XX testicular and ovotesticular differences of sex development, most often caused by a translocated SRY gene or changes at SOX9 or SOX3, and less often by variants in NR5A1, RSPO1 or WNT4.
Mit változtat a diagnózis
Diagnosis explains azoospermia, informs hormone management, and in RSPO1-related disease prompts skin cancer surveillance.
Más néven
46,XX disorders of Sex development; 46,XX DSD; female pseudohermaphroditism
10 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- 46,XX disorder of sex development-anorectal anomalies syndrome
- 46,XX disorder of sex development-skeletal anomalies syndrome
- 46,XX sex reversal 1
- 46,XX sex reversal 2
- 46,XX sex reversal 3
- 46,XX sex reversal 4
- 46,XX testicular disorder of sex development
- 46,XX true hermaphroditism, SRY-positive
- Michels Caskey syndrome
- palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
