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Article

Genotyping in patients with congenital adrenal hyperplasia by sequencing of newborn bloodspot samples.

Journal of pediatric endocrinology & metabolism : JPEM - 26 Oct 2023

Ludwig Karissa, Lai Fei, Wiley Veronica, Ravine Anja, Srinivasan Shubha

Abstract excerpt

OBJECTIVES: Genotype-phenotype correlation in congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency ranges from 45 to 97 %. We performed massively parallel sequencing of CYP21A2 on stored newborn bloodspot samples to catalogue the genotypes present in our patients with CAH and enable genotype-phenotype comparison. METHODS: Participants ≤15 years old with clinically diagnosed CAH were recruited...

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Share to Adrenal Hyperplasia, Congenital
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 37728028
DOI: 10.1515/jpem-2023-0044

Genes

CYP21A2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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