{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T14:41:03Z","timestamp":1778510463136,"version":"3.51.4"},"reference-count":14,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2018,7,20]],"date-time":"2018-07-20T00:00:00Z","timestamp":1532044800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2018,10]]},"abstract":"Summary<\/jats:title>Objective<\/jats:title>Cushing disease (CD<\/jats:styled-content>) is a rare entity caused by ACTH<\/jats:styled-content>\u2010secreting 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<\/jats:styled-content>1<\/jats:italic>, leading to multiple endocrine neoplasia type 1, MEN<\/jats:styled-content>1<\/jats:italic>. We have reported previously that CD<\/jats:styled-content> can be the first and only presenting manifestation of MEN<\/jats:styled-content>1. In this report, we describe a cohort of paediatric patients who presented with CD<\/jats:styled-content> as the first manifestation of MEN<\/jats:styled-content>1.<\/jats:p><\/jats:sec>Materials and Methods<\/jats:title>A retrospective analysis of paediatric patients admitted to the National Institutes of Health (NIH<\/jats:styled-content>) Clinical Center for evaluation of hypercortisolism, between 1997 and 2017. MEN<\/jats:styled-content>1 was diagnosed on a clinical, familial and\/or genetic basis.<\/jats:p><\/jats:sec>Results<\/jats:title>Of a total of 238 children with CD<\/jats:styled-content>, six patients were subsequently diagnosed with MEN<\/jats:styled-content>1, three males and three females with a mean age at diagnosis of CD<\/jats:styled-content> at 13.4\u00a0\u00b1\u00a02.9\u00a0years. Five of the six patients had familial MEN<\/jats:styled-content>1 and one patient was a sporadic case. Additional manifestations of MEN<\/jats:styled-content>1 included primary hyperparathyroidism in three patients and hyperprolactinemia in two patients.<\/jats:p><\/jats:sec>Discussion<\/jats:title>This report describes a paediatric patient population with MEN<\/jats:styled-content>1 in whom CD<\/jats:styled-content> was the initial manifestation, confirming a previous observation that paediatric patients with MEN<\/jats:styled-content>1 may present first with an ACTH<\/jats:styled-content>\u2010producing adenoma. Therefore, germline MEN<\/jats:styled-content>1<\/jats:italic> mutations should be sought in paediatric CD<\/jats:styled-content> and tested for when there is a suggestive family history and\/or other manifestations.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cen.13796","type":"journal-article","created":{"date-parts":[[2018,6,21]],"date-time":"2018-06-21T14:22:50Z","timestamp":1529590970000},"page":"437-443","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["Children with MEN<\/scp>1<\/i> gene mutations may present first (and at a young age) with Cushing disease"],"prefix":"10.1111","volume":"89","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1723-9731","authenticated-orcid":false,"given":"Angeliki","family":"Makri","sequence":"first","affiliation":[{"name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) National Institutes of Health Bethesda Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Belen","family":"Bonella","sequence":"additional","affiliation":[{"name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) National Institutes of Health Bethesda Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margaret F.","family":"Keil","sequence":"additional","affiliation":[{"name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) National Institutes of Health Bethesda Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Hernandez\u2010Ramirez","sequence":"additional","affiliation":[{"name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) National Institutes of Health Bethesda Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriella","family":"Paluch","sequence":"additional","affiliation":[{"name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) National Institutes of Health Bethesda Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3794-9634","authenticated-orcid":false,"given":"Amit","family":"Tirosh","sequence":"additional","affiliation":[{"name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) National Institutes of Health Bethesda Maryland"},{"name":"Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carolina","family":"Saldarriaga","sequence":"additional","affiliation":[{"name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) National Institutes of Health Bethesda 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Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3188-377X","authenticated-orcid":false,"given":"Maya","family":"Lodish","sequence":"additional","affiliation":[{"name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) National Institutes of Health Bethesda 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