Clinical features and genetics of androgen insensitivity syndromes

Clinical features	Complete AIS	Partial AIS/female	Partial AIS/male	Minimal AIS
Genital appearance	Completely female external genitalia, short vagina	Clitoromegaly, narrow vagina, variable fusion of labia minora	Hypospadias, variable scrotum bifidum	Unambiguous male
Location of gonads	Mostly abdominal or inguinal	Mostly inguinal	Mostly scrotal	Scrotal
Pubertal development	Feminization	Breast development and slight virilization	Persistent gynecomastia and slight virilization	Gynecomastia and virilization
Secondary sexual hair	Sparse to absent	Sparse	Slightly diminished	Slightly diminished
Spermatogenesis	Absent	Absent	Absent to severely impaired	Mostly severely impaired
AR gene mutations	Located throughout AR gene	Mostly DNA-binding and hormone-binding domain	Mostly DNA-binding and hormone-binding domain	Located throughout AR gene, in case of spino-bulbar muscular atrophy: within CAG repeat region of N-terminal region
Timing of gonadectomy	Post-pubertal gonadectomy favored	Pre-pubertal gonadectomy favored	No gonadectomy, but surveillance recommended	No gonadectomy, but surveillance recommended

AIS: androgen insensitivity syndrome; AR: androgen receptor.

Graphic 91851 Version 4.0