Three siblings with complete androgen insensitivity syndrome
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
Material submitted for publication in the Journal of Endocrinology, Metabolism and Diabetes of South Africa (JEMDSA) is accepted provided it has not been published elsewhere. JEMDSA reserves copyright of the material published. Neither JEMDSA nor the Publisher may be held responsible for statements made by the authors.