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

被引:25
作者
Gregersen, N
Viljoen, D
机构
[1] NHLS, Div Human Genet, Sch Pathol, ZA-2000 Johannesburg, South Africa
[2] Univ Witwatersrand, Johannesburg, South Africa
关键词
Costello syndrome; growth hormone; cortisol deficiency; glucose metabolism; endocrine disturbances;
D O I
10.1002/ajmg.a.30189
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
引用
收藏
页码:171 / 175
页数:5
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