Androgen insensitivity syndrome (complete and partial)
X-kromoszómához kötött recesszív
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.
Mit változtat a diagnózis
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.
Vizsgált gének
Más néven
AIS; androgen insensitivity, X-linked recessive; androgen resistance syndrome; Goldberg-Maxwell syndrome; Morris syndrome; testicular feminization syndrome; testicular feminization syndrome (formerly)
2 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- complete androgen insensitivity syndrome
- partial androgen insensitivity syndrome
