Multiple endocrine neoplasia (MEN) type 1 syndrome is an autosomal dominant disorder caused by germline mutations in MEN1\ngene, characterized by tumours in endocrine and nonendocrine organs. Giant prolactinoma is defined as tumours larger than\n40mm with very high prolactin secretion.We report two unrelated Sri Lankan patients (8-year-old boy and a 20-year-old female)\nwho presentedwith giant prolactinomas withmass effects of the tumours.The female patient showed complete response tomedical\ntherapy, while the boy developed recurrent resistant prolactinoma needing surgery and radiotherapy. During follow-up, both\ndeveloped pancreatic neuroendocrine tumours. Genetic analysis revealed that one was heterozygous for a nonsense mutation and\nother formissensemutation inMEN1 gene. Screening confirmed familial MEN-1 syndrome in their families.High clinical suspicion\nupon unusual clinical presentation prompted genetic evaluation in these patients and detection of MEN1 gene mutation. Pituitary\nadenomas in children with MEN-1 syndrome are larger tumours with higher rates of treatment resistance. This report emphasizes\nimportance of screening young patients with giant prolactinoma for MEN-1 syndrome and arranging long-term follow-up for\nthem expecting variable treatment outcomes. Sri Lanka requires further studies to describe the genotypic-phenotypic variability of\nMEN-1 syndrome in this population.
Loading....