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.
Co se diagnózou změní
Diagnosis explains azoospermia, informs hormone management, and in RSPO1-related disease prompts skin cancer surveillance.
Známé také jako
46,XX disorders of Sex development; 46,XX DSD; female pseudohermaphroditism
Zahrnuje 10 příbuzných podtypů ↓Skrýt podtypy ↑
- 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
