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.
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Authors | Nerine Gregersen, Denis Viljoen |
Journal | American 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 |
PMID | 15316966
(Publication Type: Case Reports, Journal Article)
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Copyright | Copyright 2004 Wiley-Liss, Inc. |
Chemical References |
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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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