Three siblings with complete androgen insensitivity syndrome

Abstract

A 27-year old woman presented with primary amenorrhoea and infertility. On examination, she was found to have palpable inguinal gonads, normal female external genitalia, a blind-ending vagina with no cervix, almost complete absence of axillary and pubic hair, and good breast development. Further investigations confirmed the absence of internal female genitalia, the presence of a 46,XY karyotype and testosterone levels in the high normal male reference range. A diagnosis of complete androgen insensitivity syndrome was made, based on this clinical picture and laboratory findings. Two of her younger siblings were subsequently also diagnosed with this condition. She underwent an orchidectomy and is currently on female hormone replacement therapy. At the time of writing up this case study, her two younger sisters were still awaiting surgery.

Keywords: siblings, complete androgen insensitivity syndrome, disorders of sex development