Article
Children with MEN1 gene mutations may present first (and at a young age) with Cushing disease.
Clinical endocrinology - 1 Oct 2018
Makri Angeliki, Bonella Maria Belen, Keil Margaret F, Hernandez-Ramirez Laura, Paluch Gabriella, Tirosh Amit, Saldarriaga Carolina, Chittiboina Prashant, Marx Stephen J, Stratakis Constantine A, Lodish Maya
Abstract excerpt
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 MEN1, leading to multiple endocrine neoplasia type 1, MEN1. We have reported previously that CD can be the first and only presenting manifestation of...
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