partial androgen insensitivity syndrome

info · Genetic

An androgen insensitivity syndrome that is characterized by a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action.

Signs and symptoms

Perineal hypospadias
Cryptorchidism
Micropenis
Gynecomastia
Infertility
Abnormal rib cage morphology
Male pseudohermaphroditism
Bifid scrotum
Absent vas deferens
Hypogonadism

Also known as: Reifenstein syndrome