Synonyms: complete androgen insensitivity
Karyotype: 46 XY
Inheritance: X-linked recessive
Clinical findings:
(1) female external genitalia with underdeveloped labia and blind-ending vagina
(2) normal female habitus and breast development
(3) unilateral or bilateral inguinal hernia
(4) primary amenorrhea
(5) reduced or absent axillary and pubic hair
(6) testes are present and may be within the abdomen, in the inguinal canal or in the labia
(7) uterus, fallopian tubes and ovaries Mullerian duct remnants) are absent
(8) Wolffian duct derivates (vasa deferentia, epididymides, seminal vesicles) are absent
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
