Synonyms: incomplete or partial androgen insensitivity
Karyotype: 46 XY
Inheritance: X-linked recessive
Clinical findings:
(1) clitoromegaly (or micropenis) with or without partial fusion of the labioscrotal folds
(2) perineal urethral opening
(3) normal female habitus and breast development
(4) primary amenorrhea
(5) normal axillary and pubic hair, may become virilized
(6) testes are present and may be within the abdomen, in the inguinal canal or in the labia
(7) vagina is short and ends blindly
(8) uterus, fallopian tubes and ovaries (Mullerian duct derivates) are absent
(9) Wolffian duct derivates (vasa deferentia, epididymides, seminal vesicles) are present and empty into the vagina
Affected patients are usually raised as female but may be raised as male.
Laboratory findings:
(1) normal or elevated plasma testosterone level
(2) normal or elevated plasma estrogen levels
(3) elevated plasma LH
(4) defect in the androgen receptors in cultured genital skin fibroblasts resulting in partial resistance to the effects of testosterone and dihydrotestosterone
