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Article

Novel cardiac abnormalities observed in CAH patients with tenascin-X haploinsufficiency.

Frontiers in endocrinology - 1 Jan 2026

Sappl Andrea, Sriramachandran Annie M, Lottspeich Christian, Vill Katharina, Morak Monika, Welp Ann-Christin, Dervishi Orsela, Bidlingmaier Martin, Kunz Sonja, Reisch Nicole

Abstract excerpt

Background: Defects in both CYP21A2 and TNXB genes cause congenital adrenal hyperplasia combined with hypermobility-type Ehlers-Danlos syndrome (EDS), which has been named CAH-X syndrome. Objective: This study aimed to determine the frequency of CAH-X within the Munich cohort of CAH patients (n = 155: salt wasting = 94, simple virilizing = 44, non-classical = 12, gene carrier = 4, 11β-deficiency = 1) and assess...

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

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Share to Heart Defects, Congenital

Share to Steroid 21-Hydroxylase

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Source

Open in PubMed Open full text

Identifiers

PMID: 42222075
DOI: 10.3389/fendo.2026.1797669
PMCID: PMC13218977

Genes

CYP21A2
TNXB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Novel cardiac abnormalities observed in CAH patients with tenascin-X haploinsufficiency.PMID 42222075Read ↗

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Ehlers-Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia.Semantic proximity Read ↗

Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.Semantic proximity Read ↗

Broadening the Spectrum of Ehlers Danlos Syndrome in Patients With Congenital Adrenal Hyperplasia.Semantic proximity Read ↗

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Congenital Adrenal Hyperplasia and Ehlers-Danlos Syndrome.Semantic proximity Read ↗

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