Genetics of congenital adrenal hyperplasia and genotype-phenotype correlation

Mithra L. Narasimhan, Ahmed Khattab

Research output: Contribution to journalReview articlepeer-review

33 Scopus citations


Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is caused by mutations in the CYP21A2 gene, located on the short arm of chromosome 6. The two main underlying mechanisms of CYP21A2 defects are large gene deletion and conversion. Anticipation of the phenotypes associated with different combinations of CYP21A2 mutations remains the most important determinant in prenatal diagnosis and counseling of the expectant couple who are determined to be at risk for congenital adrenal hyperplasia.

Original languageEnglish
Pages (from-to)24-29
Number of pages6
JournalFertility and Sterility
Issue number1
StatePublished - Jan 2019


  • CAH
  • CYP21A2
  • mutations
  • phenotype-genotype association


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