Androgen insensitivity syndrome (complete and partial)
X-vázaně recesivní
A difference of sex development caused by variants in the androgen receptor gene AR, ranging from complete insensitivity (typical female appearance) to partial forms with ambiguous genitalia or undervirilisation.
Co se diagnózou změní
Diagnosis informs hormone management and decisions on the timing of gonad removal, and a carrier mother has a 50% chance of passing the variant to each XY child.
Analyzované geny
Známé také jako
AIS; androgen insensitivity, X-linked recessive; androgen resistance syndrome; Goldberg-Maxwell syndrome; Morris syndrome; testicular feminization syndrome; testicular feminization syndrome (formerly)
Zahrnuje 2 příbuzných podtypů ↓Skrýt podtypy ↑
- complete androgen insensitivity syndrome
- partial androgen insensitivity syndrome
