Endocrine Abstracts

Tuberous sclerosis complex is characterised by non-malignant tumours in the skin, brain, kidneys, heart, eyes, lung, but sometimes angiomyolipomas may develop in the adrenals, ovaries, thyroid, and rarely neuroendocrine tumours in the pancreas, pituitary gland, parathyroids. The case of a 46-years-old female patient suffering of tuberous sclerosis and endocrine disturbances is presented. She is known with temporal lobe epilepsy since early childhood, and anxious depressive disorder with obsessive elements since young adulthood, currently receiving carbamazepine, sulpiride and fluvoxamine. At 41 years of age she was diagnosed with bilateral scleroatrophic kidneys, stage 2 chronic renal disease, hypocalcemia, and endocrine investigations were recommended. The diagnosis of tuberous sclerosis was based on four major (facial angiofibroma, periungual fibroma, Shagreen patches, cardiac rhabdomyoma) and one minor criteria (confetti skin lesions). Endocrine investigations and follow-up started from 2012. Low serum calcium level (total Ca: 8.32 mmol/l, normal: 9–11, ionic Ca: 0.92 mmol/l, normal: 1.1–1.6) with high intact parathyroid hormone value (iPTH: 133 pg/ml, normal: 15–67) showed a secondary hypoparathyroidism. Alfacalcidol and calcium therapy have normalized iPTH (47.8 pg/ml) and calcium levels (2.34 mmol/l, normal: 2.1–2.56). In 2015, at 44-years of age amenorrhoea-galactorrhoea syndrome developed due to hyperprolactinaemia (139.9 ng/ml, normal: 5–26). Polyethylene glycol treatment showed the presence of macroprolactin and a moderate genuine hyperprolactinaemia, which was explained by the use of antidopaminergic therapy. 5 mg/day bromocriptine normalized menstrual disturbancies, but psychiatric symptoms worsened, therefore we reduced the dose to 2.5 mg/day (PRL: 40.75 ng/ml). In 2015 cranial and abdominal MRI were performed. None of the typical lesions of tuberous sclerosis were observed, but a 4 mm pituitary microadenoma was detected, which was interpreted as a non-functioning pituitary incidentaloma. In the literature a few cases of GH, ACTH- or PRL-secreting pituitary adenomas, and one non-functioning adenoma were reported.