Endocrine Abstracts

Introduction: Hamartomas are benign tumors that occur in many different parts of the body. Brain locations of hamartoma are rare but still reported in few cases such as the tuber cinereum (TC) location. Children with hypothalamic hamartomas develop precocious puberty generally associated with gelastic seizures. However, TC hamartomas do not necessarily induce clinical symptoms. Amenorrhea has never been reported as a revealing symptom of TC hamartomas. Here we describe an atypical discovery of a giant hamartoma of the TC in a young woman who presented for a secondary amenorrhea.

Case Presentation: A 23-year-old woman presented to our department for a secondary amenorrhea associated with recurrent headaches. The past history revealed that the patient had her first periods at the age of 19-year-old, and presented one year after a spaniomenorrhea. On examination, there was no hirsutism, no galactorrhea no signs of hypothyroidism or hypogonadism with a normal neurological examination. Her body mass index was 30 kg/m². Pelvic exam was normal. Laboratory data revealed a negative Human Chorionic Gonadotropin level, normal thyroid function and normal serum levels of Growth hormone and ACTH. Serial hormone tests including serum concentration of luteinizing hormone, follicle stimulating hormone, estradiol, and progesterone, indicated normal cyclical ovarian activity. A moderate hyperprolactinemia after dilution was identified (=33 ng/ml [3–20 ng/ml]). There were no other medications intakes explaining the hyperprolactinemia. Synacthen testing showed normal adrenal response. A luteinizing hormone-releasing hormone test showed a normal gonadotrophin response excluding the pituitary cause of the secondary amenorrhea. Hyperprolactinemia was the selected diagnosis to secondary amenorrhea. A magnetic resonance imaging revealed a homogeneous suprasellar hamartoma of the TC of 20 mm, with sellar extension. The hyperprolactinemia was explained by the mechanical compression on the pituitary stalk. The patient was started on cabergoline with an improvement of the prolactin levels and had a natural pregnancy 6 months later.

Conclusion: The hamartoma of the TC is a rare, non-neoplastic heterotopic mass of normal nervous tissue. In contrast, during early life, the diagnosis is made of clinical symptoms such as precocious puberty and/or gelastic seizures. Works on clinical manifestations in the adult life are rare. In our case the main symptom was a secondary amenorrhea. More detailed imaging techniques and new molecular methods may, in future, provide further insight into the pathogenesis of either sexual impairment or seizure activity in TC hamartoma.