Bilateral ovarian steroid cell tumours and massive macronodular adrenocortical disease in a patient with hereditary leiomyomatosis and renal cell cancer syndrome.

Sir, Hereditary leiomyomatosis and renal cell carcinoma syndrome (HLRCC) is a rare autosomal dominant syndrome associated with heterozygous germline mutations of the fumarate hydratase (FH) gene located on chromosome 1q42.3–43. Common clinical manifestations of HLRCC include cutaneous leiomyomas (76–85%), uterine leiomyomas (95–100%), and renal cancer (16–35%). While rare or solitary cases of other benign or malignant tumours such as uterine leiomyosarcomas, bilateral macronodular adrenocortical disease, Leydig cell tumours of the testis, and ovarian cystadenomas have been reported in patients with HLRCC, the association with ovarian steroid cell tumours has not been reported to date. Here we report a case of HLRCC associated with bilateral ovarian steroid cell tumours. A 31-year-old woman was hospitalised for chest pain to rule out myocardial infarction. Her medical history was significant for a hysterectomy and left salpingo-oophorectomy at 22 years of age for multiple intramural and subserosal uterine leiomyomas (the largest was 65 mm in diameter) and a steroid cell tumour of the left ovary. Her family history was significant for a paternal skin condition that remains undiagnosed and a maternal grandfather who died of kidney cancer (Fig. 1A). Pertinent physical examination findings included multiple skin lesions on the right upper extremity, chest and abdomen, hirsutism, clitoromegaly, and a palpable right adnexal mass. Laboratory evaluation revealed polycythaemia with a haematocrit of 58.3% (normal range 37.0–47.0%), free serum testosterone of 960 ng/dL (normal range <20 ng/dL) and urine 17-ketosteroids of 68 mg/24 h (normal range 4.4–14.2 mg/24 h). A computed tomography (CT) scan of the chest, abdomen and pelvis demonstrated retroperitoneal lymphadenopathy, large