Introduction: Complete androgen insensitivity syndrome (CAIS) is an X-linked genetic disorder characterised by normal female appearance, including external genitalia and the presence of 46XY karyotype. We report a case of CAIS, diagnosed in adulthood, and discuss ethical issues surrounding the disclosure of diagnosis and associated difficulties in further management.
Case history: A 33-year-old Nigerian lady was referred to our endocrine service with Primary amenorrhoea. She stated that she was partially investigated in another centre and was found to have a shrunken uterus on ultrasound scanning and Laparoscopy, and normal ovaries. She had normal external genitalia with paucity of axillary and pubic hair. Although her testosterone level was markedly elevated at 21 nmol/l, she was not hirsuite with no masculine features. Her DHEAS was normal (3.2 μmol/l) and 17OH Progesterone was midly raised (5 nmol/l).
Chromosomal analysis demonstrated 46XY karyotype consistent with androgen insensitivity syndrome. Each time the issue of chromosomal abnormality was mentioned, she declined further information and refused to see a clinical geneticist. Diagnosis was disclosed to the patient and her family but, she refused to accept stating her previous normal investigations.
After constant persuasion, she underwent an MRI scan of her pelvis which confirmed absence of uterine tissue and presence of reproductive tissue within pelvis (probably testicular in origin). She refused referral to Gynaecologist for surgical removal of the tissue, despite being warned of malignancy risk and did not attend her further follow-up appointments.
Discussion: This case highlights the psychological trauma which can be associated when faced with a diagnosis of CAIS and how they frequently avoid medical care. Sensitivity, awareness and a multi-disciplinary approach are needed in the management of these patients.