The spectrum of CYP21A2 mutations in Congenital Adrenal Hyperplasia in an Indian cohort

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• 作者：Ragini Khajuria^a ; Rama Walia^b ; Anil Bhansali^b ; Rajendra Prasad^a ; ^{fateh1977@yahoo.com}
• 关键词：CAH ; Congenital Adrenal Hyperplasia ; CYP21A2 ; 21-Hydroxylase gene ; SW ; salt wasting ; SV ; simple virilizing ; NC ; non classical
• 刊名：Clinica Chimica Acta
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：464
• 期：Complete
• 页码：189-194
• 全文大小：385 K
• 卷排序：464

文摘

Majority of CAH patients were compound heterozygous for the mutations. 63.6% of CAH patients were females while males constituted 36.3% of total CAH patients in the present cohort. There was high frequency of i2g mutation in CYP21A2 gene among CAH patients. Genotypes were grouped in four groups on basis of underlying combination of mutations. Genotyping plays a pivotal role in genetic counseling of patients and their families.