Case: A 46-year-old woman presented to the gynaecology department with secondary amenorrhoea, hirsutism and acne. At the age of 25, she was diagnosed with Von HippelLindau disease (VHLD) on the basis of multiple right retinal haemangioblastomas. Investigation revealed an elevated testosterone 13.4 nmol/l (0.32.6 nmol/l), 17 hydroxyprogesterone 18 nmol/l and free androgen index 53.6 (0.07.5). A solid lesion in the left ovary was demonstrated on ultrasound scan of the pelvis. This was confirmed by computerised tomography (CT), where a right adrenal mass measuring 21×22 mm in dimension and a cortical cyst in the lower pole of the left kidney were incidentally noted. An endocrinology opinion was sought prior to exploratory surgery.
Twenty-four hour urinary metanephrine and normetanephrine levels plus serum dihydroepiandrosterone sulphate (DHEAS) were within normal limits. Biopsy of the left ovary revealed a steroid cell tumour strongly positive for calretinin. She underwent total abdominal hysterectomy and bilateral salpingo-oophorectomy. Post operatively testosterone levels normalised and the features of virilisation regressed.
Discussion: Von HippelLindau disease is an autosomal dominant condition with an incidence of 1 in 36 000 live births. It is characterised by CNS haemangioblastomas and visceral tumours. The VHL gene is a tumour suppressor gene found on chromosome 3. Gonadal involvement is in the form of epididymal cystadenomas in men and broad ligament cystadenomas in women.
Steroid cell tumours are rare, accounting for <0.1% of ovarian tumours. They are unilateral in 96% of cases, and 30% are malignant. They commonly secrete androgens and present with virilisation, often in the 3rd or 4th decade. The management is surgical.
Conclusion: We report an unusual case of an ovarian steroid cell tumour in association with VHLD. This highlights the need to remain vigilant for unusual pathologies and a possible link between the two diseases.