ArticleClinical endocrinology2018
Children with MEN1 gene mutations may present first (and at a young age) with Cushing disease.
Article in Clinical endocrinology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 28 citations in OpenAlex.
- Progress report on multiple endocrine neoplasia type 1.Familial cancer · 2025Review
- Identification and validation of cortisol-related hub biomarkers and the related pathogenesis of biomarkers in Ischemic Stroke.Brain and behavior · 2024Article
- An update on, and genetics of refractory adenomas of childhood.Pituitary · 2023Review
- Expressions of Cushing's syndrome in multiple endocrine neoplasia type 1.Frontiers in endocrinology · 2023Review
- Genetic drivers of Cushing's disease: Frequency and associated phenotypes.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Genetic Basis of ACTH-Secreting Adenomas.International journal of molecular sciences · 2022Review
- Multiple endocrine neoplasia type 1 combined with thyroid neoplasm: A case report and review of literatures.World journal of clinical cases · 2022Article
- Beyond the "3 Ps": A critical appraisal of the non-endocrine manifestations of multiple endocrine neoplasia type 1.Frontiers in endocrinology · 2022Review
- Consensus on diagnosis and management of Cushing's disease: a guideline update.The lancet. Diabetes & endocrinology · 2021Review
- Clinical aspects of multiple endocrine neoplasia type 1.Nature reviews. Endocrinology · 2021Review
- Germline CDKN1B Loss-of-Function Variants Cause Pediatric Cushing's Disease With or Without an MEN4 Phenotype.The Journal of clinical endocrinology and metabolism · 2020Article
- Aggressive pituitary tumors in the young and elderly.Reviews in endocrine & metabolic disorders · 2020Review
- Cushing syndrome: Old and new genes.Best practice & research. Clinical endocrinology & metabolism · 2020Review
- Rare GermlineFrontiers in endocrinology · 2020Article
- The Genetics of Pituitary Adenomas.Journal of clinical medicine · 2019Review
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 2 countries.
Funding
Abstract
objectiveCushing 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 MEN1, leading to multiple endocrine neoplasia type 1, MEN1. We have reported previously that CD can be the first and only presenting manifestation of MEN1. In this report, we describe a cohort of paediatric patients who presented with CD as the first manifestation of MEN1. MATERIALS AND
methodsA retrospective analysis of paediatric patients admitted to the National Institutes of Health (NIH) Clinical Center for evaluation of hypercortisolism, between 1997 and 2017. MEN1 was diagnosed on a clinical, familial and/or genetic basis.
resultsOf a total of 238 children with CD, six patients were subsequently diagnosed with MEN1, 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 MEN1 and one patient was a sporadic case. Additional manifestations of MEN1 included primary hyperparathyroidism in three patients and hyperprolactinemia in two patients. DISCUSSION: This report describes a paediatric patient population with MEN1 in whom CD was the initial manifestation, confirming a previous observation that paediatric patients with MEN1 may present first with an ACTH-producing adenoma. Therefore, germline MEN1 mutations should be sought in paediatric CD and tested for when there is a suggestive family history and/or other manifestations.
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