Open AccessMolecular genetic analysis of CYP21A2 gene in patients with congenital adrenal hyperplasia
Author(s) -
Marumudi Eunice,
Aruna Sharma,
Bindu Kulshreshtha,
Rajesh Khadgawat,
Madan Lal Khurana,
AC Ammini
Publication year - 2012
Publication title -
indian journal of endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.456
H-Index - 28
eISSN - 2230-9500
pISSN - 2230-8210
DOI - 10.4103/2230-8210.95679
Subject(s) - congenital adrenal hyperplasia , medicine , cohort , 21 hydroxylase , genotype , gene , genetics , pediatrics , endocrinology , biology
Congenital adrenal hyperplasia (CAH) is one of the inborn errors of metabolic disorder inherited in an autosomal recessive manner caused by the defects in the steroid 21 hydroxylase CYP21A2 gene. We analyzed the genotype of 62 patients with classic CAH.