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Article

Prenatal treatment of congenital adrenal hyperplasia-not standard of care.

Journal of genetic counseling - 1 Oct 2012

Witchel Selma Feldman, Miller Walter L

Abstract excerpt

Congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency is a common autosomal recessive disorder due to mutations in the CYP21A2 gene. Since genetic counselors play a crucial role in educating families about inherited disorders, they need to have thorough knowledge regarding the pathophysiology of CAH especially the effects on the fetus, the complex genetics of this disorder, and the...

Topics

Adrenal Hyperplasia, Congenital
Animals
Female
Genetic Counseling
Humans
Male
Mutation
Prenatal Diagnosis
Steroid 21-Hydroxylase

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 22639328
DOI: 10.1007/s10897-012-9508-8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-22639328-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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