Paediatric and young adult manifestations and outcomes of multiple endocrine neoplasia type 1

Context: Multiple endocrine neoplasia 1 (MEN 1) is an autosomal dominant diseasepresenting as hyperplasia and neoplasia of parathyroid, pituitary and enteropancreatic tissues. Over 90% of gene carriers develop phenotypic disease by age 30 years,potentially with onset of asymptomatic disease during childhood and adolescence.Objective: To describe the paediatric and young adult manifestations of MEN 1.Design: Descriptive retrospective study of 180 patients with a common MEN1 genotype. The paediatric and young adult (age Results: Primary hyperparathyroidism (PHPT) was identified in 42 patients (meanage 17.2 ± 3.3 years). Parathyroidectomy was performed in 16 (38.1%; mean age17.8 ± 3.2). Four patients experienced recurrent PHPT (25%), and six (37.5%) developed permanent hypoparathyroidism. Pituitary disease was identified in 13 patients. Prolactinoma was found in nine patients (mean age 16.6 ± 2.6 years) of whomfour (44.4%) had macroprolactinoma. Two patients required surgical intervention;dopamine agonists showed efficacy in six patients. Two patients with Cushing's disease were successfully treated surgically. Three patients with nonfunctioning pituitary microadenoma managed conservatively. Pancreatic neuroendocrine neoplasms(pNENs) were diagnosed in 12 patients (mean age 17.0 ± 2.6 years): three patientswith insulinoma successfully resected (two resected and one exhibiting perineuralinvasion) and nine patients with nonfunctioning adenomas (NFAs).Conclusion: Pituitary adenomas, PHPT and pNENs are encountered in the paediatricand young adult MEN 1 population. Successful outcomes are typically achieved usingstandard medical and surgical paradigms; however, parathyroidectomy was associated with a substantial complication rate