A novel mutation in a patient with severe childhood presentation of Multiple Endocrine Neoplasia Type 1.

ROMINA P. GRINSPON; SOLEDAD RODRIGUEZ PRIETO; PATRICIA FAISNTEIN DAY; ESCOBAR MARÍA EUGENIA

Costa do Sauipe, Bahia , Brazil

Congreso; XXI Annual Meeting of the Latin American Society for Pediatric Endocrinology (SLEP).; 2010

Latin American Society for Pediatric Endocrinology (SLEP).

Background: Multiple endocrine neoplasia type 1 (MEN1) is characterized by development of endocrine tumors in parathyroid, pancreas, and pituitary. It is caused by inactivating mutations of MEN1 gene, which codes for the tumor suppressor menin. Esporadic MEN 1 associated tumors are not common before adolescence. Objective: To report a novel mutation in a patient with unusual severe childhood presentation of MEN1. Methods: Case report. DNA was extracted from peripheral blood leukocytes. Exons 2 to 10 of MEN1 gene were amplified by PCR and sequenced by an automated method. A 13 year old girl presented with a large selar mass, galactorrea, and hemianopsia. Macroprolactinoma and hyperparathyroidism were diagnosed (prolactin 8280 ng/ml and PTH 248 pg/ml). 70% reduction of tumor size, visual camp improvement and prolactin normalization were obtained with cabergoline. Parathyroidectomy with parathyroid autograft resolved hyperparathyroidism. She further developed growth hormone and gonadotropin deficiency. Results: We identified a novel heterozygous MEN1 gene deletion in exon 3: c.471delG. Family screening identified the same mutation in the father and an aunt.Conclusion: In this patient c.471delG was associated with an early and severe presentation of MEN 1 syndrome. Genetic testing allowed not only diagnosis confirmation but also detection of asymptomatic affected family members.