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Costello syndrome with growth hormone deficiency and hypoglycemia: A new report and review of the endocrine associations
Author(s) -
Gregersen Nerine,
Viljoen Denis
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30189
Subject(s) - hypoglycemia , endocrine system , growth hormone deficiency , medicine , endocrinology , growth hormone , hormone , pediatrics , insulin
We describe an 18‐month‐old boy with Costello syndrome (CS) with proven partial growth hormone (GH) deficiency and hypoglycemic episodes. The hypoglycemia is deemed to be due to cortisol deficiency. This report represents the second published case of cortisol deficiency in the CS. A brief review of the endocrine disturbances in the syndrome is provided. We highlight the need for careful endocrinological evaluation of individuals with CS. © 2004 Wiley‐Liss, Inc.