Open AccessClinical profile and inheritance pattern of CYP21A2 gene mutations in patients with classical congenital adrenal hyperplasia from 10 families
Author(s) -
Sarita Yadav,
Shweta Birla,
Marumudi Eunice,
Aruna Sharma,
Rajesh Khadgawat,
Madan Lal Khurana,
AC Ammini
Publication year - 2015
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 - 10.4103/2230-8210.163191
Subject(s) - congenital adrenal hyperplasia , genetics , allele , locus (genetics) , genotype , gene , offspring , medicine , genetic counseling , biology , pregnancy
Congenital adrenal hyperplasia (CAH) is an autosomal recessive metabolic disorder caused by mutations in the CYP21A2 gene. Genetic diagnosis of 21-OH deficiency causing CAH is more complicated than any other monogenic disorder due to high variability of the locus. The disease has a wide spectrum of clinical variants making it difficult to establish a genotyp-phenotype correlation. Therefore, family studies are necessary to ascertain parental genotype and segregation of the mutant allele among the offspring.