The XY Female (Androgen Insensitivity Syndrome)—Runs in the Family

Abstract

Androgen insensitivity syndrome (AIS) was first described in details by Morris [1], who provided the descriptive terms—testicular feminization syndrome for this disorder, which is inherited as X-linked recessive disorder. The underlying pathology is the inability of the end organs to respond to androgens, either due to lack of androgen cytosol receptor or defect in the receptor. Genotypically they are male (XY) but phenotypically and psychologically female [2], usually present with primary amenorrhoea or infertility with well developed breast, but absent axillary and pubic hair, normal external genitalia and short and blind vagina. The upper two-thirds of vagina, uterus and tubes are absent. Gonads (testes) are normally developed but abnormally positioned; either placed in the labia, or inguinal canal or intra-abdominal. The hormone profile in these individual is typical—high LH, normal to slightly elevated testosterone levels, high estradiol (for men), and normal to elevated FSH.