Endocrine Abstracts

Objective: To report a case of tuberous sclerosis presenting with hyperprolactinemia.

Methods: Clinical, laboratory and radiographic data are reported on a 26-year-old female presenting with galactorrhea and menstrual irregularities.

Case report: A 26-year-old female with no premorbidities presented with complaints of galactorrhea for the past 10 days and menstrual irregularities over the past 6 months. Galactorrhea was spontaneous. Her last childbirth 4 years ago was uneventful. She had no head ache, vomiting, and visual impairment. She denied any history of substance abuse, drug intake hypothyroidism, chronic liver or kidney diseases, and epilepsy. She was a well nourished female with mild pallor, tiny nodule on face, subungual fibroma in hands. There was spontaneous galactorrhea and mildly tender breasts without any signs of inflammation. Systemic examination was entirely normal with normal IQ. Ophthalmologic evaluation revealed white disk shaped retinal hamartoma. Routine laboratory investigations including renal and liver function tests, thyroid profile were normal. Serum prolactin was 85 ng/ml with FSH-4.66 and LH-4.21 mIU/ml. Tests for evaluation of other anterior pituitary hormones were normal. Abdominal and pelvic ultrasound revealed no abnormality. Chest X ray showed bilateral interstitial infiltrates. Echocardiogram of heart was normal. Computed tomography (CT) scan revealed multiple intracerebral calcifications. These calcified lesions/ subependymal hamartomas are seen along the lateral surface of the lateral ventricles giving rise to characteristic candle dripping appearance. Magnetic resonance imaging (MRI) of the brain ruled out the presence of any pituitary mass. The combined clinical scenario along with the radiologic findings leads to the diagnosis of TSC with hyperprolactinemia. Patient was prescribed cabergoline 0.5 mg twice daily which resulted in amelioration of galactorrhea and regularization of menses.

Discussion: Tuberous sclerosis (TSC) is a multi system genetic disorder which infrequently affects the endocrine system. Cushing’s disease, hypoglycemia secondary to insulinomas, precocious puberty, thyrotoxicosis, hypercalcemia secondary to parathyroid adenomas, hyperprolactinemia and acromegaly have all been reported in TSC patients. The circulating prolactin of our patient may be of pituitary origin or may possibly be secreted ectopically by a hamartoma.

Conclusion: TSC patients develop hormone secreting tumors involving the neuroendocrine system.