Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera.

doi:10.1002/mgg3.2195

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Article

Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera.

Molecular genetics & genomic medicine - 1 Jul 2023

Lao Qizong, Burkardt Deepika D, Kollender Sarah, Faucz Fabio R, Merke Deborah P

Abstract excerpt

BACKGROUND: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase (21OH) deficiency is an autosomal recessive inborn error of cortisol biosynthesis, with varying degrees of aldosterone production. There is a continuum of phenotypes which generally correlate with genotype and the expected res...

Topics

Female
Humans
Adrenal Hyperplasia, Congenital
Alleles
Genetic Testing
Steroid 21-Hydroxylase
Young Adult

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