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Costello syndrome with growth hormone deficiency and hypoglycemia: a new report and review of the endocrine associations.

Abstract
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.
AuthorsNerine Gregersen, Denis Viljoen
JournalAmerican journal of medical genetics. Part A (Am J Med Genet A) Vol. 129A Issue 2 Pg. 171-5 (Aug 30 2004) ISSN: 1552-4825 [Print] United States
PMID15316966 (Publication Type: Case Reports, Journal Article)
CopyrightCopyright 2004 Wiley-Liss, Inc.
Chemical References
  • Growth Hormone
  • Cortisone
Topics
  • Abnormalities, Multiple
  • Age Factors
  • Cortisone (therapeutic use)
  • Growth (drug effects)
  • Growth Disorders (complications, congenital, drug therapy, pathology)
  • Growth Hormone (deficiency, therapeutic use)
  • Humans
  • Hypoglycemia (complications)
  • Infant, Newborn
  • Male
  • Phenotype
  • Syndrome

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