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Article

Causal associations between congenital adrenal hyperplasia and neuropsychiatric conditions- a Mendelian Randomization Study.

Endocrine - 1 Jul 2025

Liu Yang, Gang Xiaokun, Gao Yuan, Wang Guixia

Abstract excerpt

BACKGROUND: Congenital adrenal hyperplasia (CAH), predominantly caused by 21-hydroxylase deficiency (21-OHD) due to CYP21A2 mutations, disrupts cortisol synthesis and adrenal androgen homeostasis. Observational studies suggest CAH patients exhibit elevated risks of neuropsychiatric disorders, but causal mechanisms remain unestablished. We hypothesized that reduced CYP21A2 expression, reflecting CAH,...

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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

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Identifiers

PMID: 40307628
DOI: 10.1007/s12020-025-04237-4
PMCID: PMC12227516

Genes

CYP21A2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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