MEN1 syndrome is an autosomal dominant inherited disease characterised by primary hyperparathyroidism in association with endocrine enteropancratic tumors and anterior pituitary adenomas. Tumours of the pituitary gland as the first manifestations of MEN1 are very rare in children.
Clinical case report: A 13-year-old boy presented with clinical signs suggestive of Cushings syndrome. He had decreased growth rate, muscle weakness, headaches and truncal obesity. The laboratory tests and cerebral magnetic resonance imaging revealed hypercortisolism due to ACTH-producing pituitary microadenoma (6 mm). Two repeated courses of proton therapy was done as there was anatomical obstacle for transsphenoidal surgery. The complete remission of Cushings syndrome was achieved within 18 months. Primary hyperparathyroidism was subsequently diagnosed in age of 19 years with elevated serum calcium (3.19 mmol/l), PTH (99 pg/ml), hyperparathyroid osteodystrothy and renal stones. Parathyroid surgery was performed with postoperative severe hypoparathyroidism.
DNA-testing showed that he carried a heterozygous W188R mutation in MEN1 gene.
Serum calcium was evaluated in the asympomatic family members. PHPT was revealed with increased serum calcium and serum PTH in patients 40-year old mother. Subtotal parathyroidectomy was performed with intraoperative decrease of PHT to normal range. Four months later an abdominal CT scan revealed a large tumor mass located at the tail of pancreas. Despite of non-functioning behaviour of pancreatic tumor a distal pancreatectomy was performed for it large size. Histology confirmed the diagnosis of adenocarcinoma. Genetic testing of MEN1 gene showed that the woman carried the same mutation as was found in index patient. Screening for hypercalcaemia in an 18-year-old brother was normal, and he had no MEN1 related symptoms.
Conclusion: We present a clinical case of familial MEN1 syndrome that debuted with hypercortisolism at a young age. This suggests the need of follow-up due to possibility of MEN1 in patients with Cushings syndrome with clinical manifestation in childhood. Screening for MEN1-related disorders including genetic study is important in family members, and allows a precocious diagnosis and treatment.
Prague, Czech Republic
24 - 28 Apr 2010
European Society of Endocrinology