4.2 Article

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

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AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 129A, 期 2, 页码 171-175

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WILEY
DOI: 10.1002/ajmg.a.30189

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Costello syndrome; growth hormone; cortisol deficiency; glucose metabolism; endocrine disturbances

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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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