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

Abstract

Context Multiple endocrine neoplasia 1 (MEN 1) is an autosomal dominant disease presenting 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 <22 years) manifestations were determined using hospital records and disease surveillance data. Results Primary hyperparathyroidism (PHPT) was identified in 42 patients (mean age 17.2 ± 3.3 years). Parathyroidectomy was performed in 16 (38.1%; mean age 17.8 ± 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 whom four (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 patients with insulinoma successfully resected (two resected and one exhibiting perineural invasion) and nine patients with nonfunctioning adenomas (NFAs). Conclusion Pituitary adenomas, PHPT and pNENs are encountered in the paediatric and young adult MEN 1 population. Successful outcomes are typically achieved using standard medical and surgical paradigms; however, parathyroidectomy was associated with a substantial complication rate.

Surgery for multiple endocrine neoplasia type 1-related insulinoma: long-term outcomes in a large international cohort

“…Prevention of long‐term complications is important, because pancreatic insufficiency decreases quality of life in this young and otherwise unaffected population. Insulinoma is often the first manifestation of MEN1 and a common surgical indication in children and adolescents with MEN1, which underscores the importance of long‐term pancreatic function. None of the patients in this cohort who underwent enucleation developed endocrine or exocrine insufficiency, which is in line with other studies.…”

The clinical expression and impact of multiple endocrine neoplasia 1 during pregnancy

“…This is in part likely to represent an underdiagnosis of these conditions due to age‐related penetration and screening practices that focus on identification of functional pNEN and pNEN of larger size identifiable by transabdominal ultrasonography. Pituitary adenomas were the second most frequently observed MEN 1‐related endocrinopathy in this demographic, with the majority of lesions either prolactinomas or nonfunctioning adenomas, consistent with previous work 32,33 . No manifestation of MEN 1 apart from PHPT required specific intervention antenatally.…”

Multiple endocrine neoplasia type 1 with refractory hypoglycemia and lung and liver metastases: a case report

“…It must be carefully managed when it involves different disorders in individuals or families; careful management can improve the patient’s prognosis. 10 , 11 Although the clinical manifestations of MEN1 are complex and variable, the pathological changes and imaging signs of the pituitary, parathyroid, and pancreas have certain commonalities and their incidence is clearly familial. These factors are very helpful for the early diagnosis and treatment of the disease.…”