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Genetics of congenital adrenal hyperplasia and genotype-phenotype correlation.

Author information

Affiliations

  • 1. Division of Adrenal Steroid Disorders, Icahn School of Medicine at Mount Sinai, New York, New York.
      Authors
    • Narasimhan ML 1
    (1 author)
  • 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.
      Authors
    • Khattab A 2
    (1 author)

Fertility and Sterility, 01 Jan 2019, 111(1):24-29
https://doi.org/10.1016/j.fertnstert.2018.11.007 PMID: 30611409 

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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.

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Read article at publisher's site: https://doi.org/10.1016/j.fertnstert.2018.11.007

Read article for free, from open access legal sources, via Unpaywall: http://www.fertstert.org/article/S0015028218322027/pdfUnpaywall

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