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. 2012 May;16(3):384-8.
doi: 10.4103/2230-8210.95679.

Molecular genetic analysis of CYP21A2 gene in patients with congenital adrenal hyperplasia

Eunice Marumudi  1 , Arundhati Sharma, Bindu Kulshreshtha, Rajesh Khadgawat, Madan L Khurana, Ariachery C Ammini
Affiliations

Molecular genetic analysis of CYP21A2 gene in patients with congenital adrenal hyperplasia

Eunice Marumudi et al. Indian J Endocrinol Metab. 2012 May.

Abstract

Context: 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.

Aims: To find out the underlying mutations of CYP21A2 gene.

Settings and design: Cohort of CAH patients.

Materials and methods: Sixty-two patients with CAH were recruited from the endocrine clinic at AIIMS. Electrochemiluminiscence method was used for estimating the levels of cortisol. Radioimmunoassay kit-based method was used for estimating the 17 OHP levels. Polymerase chain reaction amplification was done using specific primers to amply the CYP21A2 gene.

Statistical analysis used: Statistical analysis was done by using Epi Info Version 3.5.1.2008.

Results: Out of 62 patients, 50 were simple virilizers (SV) and 12 were salt wasters (SW). Fifty-six were females and six were males. Five 46, XX children were reared as males. Age at presentation varied from 8 months to 38 years. Molecular genetic analysis revealed that the highest number of patients harboured (In 2) IVS2-13 A/C > G (48%), followed by p.P30L (46%), p.Q318X (35%), (D 8 bp) deletion 8 bp (26%), p.I172N (26%), and p. R356W (20%) mutations.

Conclusion: This is among the few studies to analyze the mutational spectrum of CYP21A2 gene in a large CAH cohort from India. Molecular diagnosis of CYP21A2 gene should be considered as part of the CAH evaluation to assess the risk of the patients/parents/siblings and to offer genetic counseling.

Keywords: Ambiguous genitalia; CYP21A2 gene; phenotype; salt wasting; simple virilizing.

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Conflict of interest statement

Conflict of Interest: None declared.

Figures

Figure 1
Figure 1
Location of the PCR primers used to detect the mutations in CYP21A2 gene
Figure 2
Figure 2
Approximate location of the CYP21A2 gene mutations
Figure 3
Figure 3
Resudual enzymatic activity according to in vitro CYP21A2 fundctional sudies. The mutation groups refer to the Krone et al. (2000) classification and correspond to the genotypes clustered in the underscrored line
See this image and copyright information in PMC

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