Endocrine Abstracts

A 49 year old Russian lady was found to have an elevated testosterone level (9 nmol/l) when investigated for hair loss. This was first detected some years ago when she apparently was given a provisional diagnosis of polycystic ovarian syndrome. When assessed in her local endocrine unit she did not report any excessive body hair growth or symptoms of virilisation. She claimed to reach the menopause aged 45 years and reported a family history of early menopause. Initial blood tests confirmed normal adrenal androgens and sex hormone binding globulin. A plan for extensive endocrine work-up and pelvic imaging was recommended, however, the patient subsequently requested a referral to our unit for a second opinion. Here she gave a significantly different history. She reported primary amenorrhoea which had previously been investigated in Russia. Although not available for review at the time of consultation, pelvic imaging there had shown an absent uterus and possible gonadal tissue in both inguinal canals. Clinically she appeared phenotypically female with no signs of virilisation. This in combination with an absent uterus and serum testosterone levels within the male reference range would be consistent with a potential diagnosis of androgen insensitivity syndrome. This was confirmed on karyotype, which returned as 46XY. A MRI pelvis showed a normal vaginal vault but there was no cervix or uterus seen. Surprisingly, the patient was also found to have mixed ovarian and testicular tissue. Due to the risk of future malignant transformation she has been referred for a gonadectomy. Pre-operative germ cell tumour markers (AFP and HCG) have returned as mildly elevated (13.9 and 4 unit/l, respectively), although Ca-125 is within the reference range. She awaits whole body cross-sectional imaging to ensure there are no distant sinister findings or associated urological abnormalities before proceeding with surgery. This case highlights the need for careful assessment of patients with elevated androgens; some of the sensitivities that accompany the assessment of reproductive disorders; the importance of considering androgen insensitivity syndrome in adult patients as a potential differential diagnosis; and the fact that, after her gonadectomy, oestrogen replacement in this patient can be unopposed in the absence of a uterus.