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Abstract

July - September 2021 | Vol. 14 | Issue 3 | 06-13
Challenges of Molecular Analysis of Congenital Adrenal Hyperplasia Caused Due to Steroid 21 Hydroxylase Deficiency
Sudhisha Dubey1, Renu Saxena1, Vinu Narayan2, Ratna Dua Puri1, Ishwar C Verma1
1Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India | 2Rainbow Children’s Hospital, Marathahalli, Bengaluru, Karnataka, India
Address for Correspondence Email: sudhishadubey@gmail.com
 
Abstract
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is an autosomal recessive disorder which results from inherited defects in the steroid 21-hydroxylase enzyme encoded by the CYP21A2 gene. Molecular analysis of CYP21A2 is important for confirming the diagnosis, carrier screening, providing accurate genetic counseling, and calculating risk of recurrence in each pregnancy. An interesting feature of the CYP21A2 gene is its location in the variable genomic regions called RCCX and presence of its highly homologous CYP21A1P pseudogene that makes molecular analysis quite challenging as compared to other monogenic disorders. Here we discuss the complexity of the CYP21A2 gene and the importance of comprehensive molecular analysis of CYP21A2 for accurate interpretation of the results citing molecular analysis of two interesting CAH cases.
 
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