Genetics of congenital adrenal hyperplasia and genotype-phenotype correlation

Mithra L Narasimhan; Ahmed Khattab

doi:10.1016/j.fertnstert.2018.11.007

Genetics of congenital adrenal hyperplasia and genotype-phenotype correlation

Fertil Steril. 2019 Jan;111(1):24-29. doi: 10.1016/j.fertnstert.2018.11.007.

Authors

Mithra L Narasimhan¹, Ahmed Khattab²

Affiliations

¹ Division of Adrenal Steroid Disorders, Icahn School of Medicine at Mount Sinai, New York, New York.
² Division of Adrenal Steroid Disorders, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Pediatrics, Divison of Pediatric Endocrinology, Robert Wood Johnson Medical School, Rutgers University, New Brunswick, New Jersey. Electronic address: ak1684@rutgers.edu.

PMID: 30611409
DOI: 10.1016/j.fertnstert.2018.11.007

Abstract

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.

Keywords: CAH; CYP21A2; mutations; phenotype-genotype association.

Publication types

Review

MeSH terms

Adrenal Hyperplasia, Congenital / diagnosis
Adrenal Hyperplasia, Congenital / enzymology
Adrenal Hyperplasia, Congenital / genetics*
Female
Gene Deletion
Genotype*
Humans
Mutation / genetics
Phenotype*
Pregnancy
Steroid 21-Hydroxylase / genetics
Steroid 21-Hydroxylase / metabolism

Substances

Steroid 21-Hydroxylase