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Children with MEN 1 gene mutations may present first (and at a young age) with Cushing disease
Author(s) -
Makri Angeliki,
Bonella Maria Belen,
Keil Margaret F.,
HernandezRamirez Laura,
Paluch Gabriella,
Tirosh Amit,
Saldarriaga Carolina,
Chittiboina Prashant,
Marx Stephen J.,
Stratakis Constantine A.,
Lodish Maya
Publication year - 2018
Publication title -
clinical endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 147
eISSN - 1365-2265
pISSN - 0300-0664
DOI - 10.1111/cen.13796
Subject(s) - endocrinology , medicine , disease , cushing's disease , gene , biology , genetics
Summary Objective Cushing disease ( CD ) is a rare entity caused by ACTH ‐secreting pituitary tumours, leading to prolonged hypercortisolism. Most cases are sporadic but can rarely occur in the context of familial predisposition, due to germline mutations in genes such as MEN 1 , leading to multiple endocrine neoplasia type 1, MEN 1 . We have reported previously that CD can be the first and only presenting manifestation of MEN 1. In this report, we describe a cohort of paediatric patients who presented with CD as the first manifestation of MEN 1. Materials and Methods A retrospective analysis of paediatric patients admitted to the National Institutes of Health ( NIH ) Clinical Center for evaluation of hypercortisolism, between 1997 and 2017. MEN 1 was diagnosed on a clinical, familial and/or genetic basis. Results Of a total of 238 children with CD , six patients were subsequently diagnosed with MEN 1, three males and three females with a mean age at diagnosis of CD at 13.4 ± 2.9 years. Five of the six patients had familial MEN 1 and one patient was a sporadic case. Additional manifestations of MEN 1 included primary hyperparathyroidism in three patients and hyperprolactinemia in two patients. Discussion This report describes a paediatric patient population with MEN 1 in whom CD was the initial manifestation, confirming a previous observation that paediatric patients with MEN 1 may present first with an ACTH ‐producing adenoma. Therefore, germline MEN 1 mutations should be sought in paediatric CD and tested for when there is a suggestive family history and/or other manifestations.