Clinical and gene analysis among one family members of congenital adrenal hyperplasia

VernacularTitle:一例先天性肾上腺皮质增生症患者家系成员的临床及基因检测结果分析
Author: Meng XUE ; Ren ZHOU ; Bing HAN ; Yan WU
Publication Type:Journal Article
Keywords: Congenital adrenal hyperplasia; 21-hydroxylase deficiency; Gene
From: Chinese Journal of Endocrinology and Metabolism 2015;(8):664-667
CountryChina
Language:Chinese
Abstract: Objective To pay attention to screening family disease and gene examination in patient with congenital adrenal hyperplasia (CAH). Method In this study, we investigated clinical data and performed gene sequencing of the pedigree and his family members with CAH. Results Based on clinical data, 3 of 6 family members were diagnosed CAH. Bone age of two boys nearly reach the maximum value. Genetic sequencing result indicated a T>A mutation of 1 004 position in CYP21A2 gene, which induced protein change I172N. Conclusion Disease screening and gene examine should be actively executed in patient with CAH in order to obtain diagnosis and start treatment as early as possible.