Endocrine Abstracts

Introduction: Polycystic ovary syndrome (PCOS) is the most common endocrine disorder of young women and depending on the diagnostic criteria, it affects 6% to 20% of reproductive aged women. PCOS is also the most common cause of hyperandrogenism in young women with the theca cells of the ovary being the source of androgen excess. PCOS is rarely associated with severe hyperandrogenaemia and atypical features such as rapid progression, presence of virilization or very high Testosterone/ androgen levels should prompt comprehensive evaluation to exclude a sinister underlying cause.

Case report: A 19-year-old Caucasian female with background of autism presented with secondary amenorrhoea, moderate acne and recent onset mild hirsutism. Examination revealed a modified Ferriman-Gallwey score of 12, central obesity with BMI 33.9 kg/m² and no signs of Cushing’s syndrome. Biochemical workup revealed severe hyperandrogenaemia with a Testosterone 4.9 nmol/l (<1.8), low SHBG 8.2 nmol/l (26–110) and a very high free androgen index of 59.7. Androstenedione was also significantly high 19.5 nmol/l (0.9–7.5). DHEAS was mildly elevated 11.3 µmol/l (1.8–10). 17-OHP was normal. In order to distinguish ACTH-dependent hyperandrogenism from other causes of hyperandrogenism, 1 mg overnight dexamethasone-suppression test was performed which suppressed Testosterone to less than 40% (from 3.8 nmol/l to 2.6 nmol/l); Androstenedione suppressed from 24.8 nmol/l to 12.6 nmol/l and there was enough Cortisol suppression to 13 nmol/l, excluding Cushing’s syndrome. She refused a transvaginal ultrasound scan of the pelvis and had MRI of the pelvis and adrenals which excluded ovarian and adrenal neoplasm; imaging features were highly suggestive of PCOS with bilateral very large ovaries (right ovary measuring 50 cc and left ovary measuring 32 cc in volume) containing multiple (at least 20–22) small sub-centimetre sized follicles.

Conclusion: This case highlights a rare presentation of a common disorder and is unusual in that the high concentration of androgens and very high free androgen index were not associated with a sinister ovarian or adrenal pathology. Mild hirsutism despite severe hyperandrogenaemia might be explained by a relatively shorter duration of exposure to androgens, low intrinsic sensitivity of her hair follicles to androgen action or reduced local 5-alpha-reductase activity. Although her presenting features were relatively mild, significantly elevated androgens and recent onset hirsutism raised concern for non-PCOS pathology requiring suppression testing and imaging for accurate diagnosis and appropriate treatment.