期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 129A, 期 2, 页码 171-175出版社
WILEY
DOI: 10.1002/ajmg.a.30189
关键词
Costello syndrome; growth hormone; cortisol deficiency; glucose metabolism; endocrine disturbances
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. (C) 2004 Wiley-Liss, Inc.
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