Cardiac Abnormalities Observed in CAH-X Syndrome Patients

A clinical dataset from a cohort of 155 congenital adrenal hyperplasia (CAH) patients screened for CAH-X syndrome. The data includes genetic screening results for CYP21A2 and TNXB variants, clinical examinations for joint and skin abnormalities, and echocardiography findings. It was authored by Andrea Sappl and last updated in May 2026.

Use Cases

• Assess the frequency of CAH-X syndrome based on genetic screening data from the Munich cohort.
• Investigate correlations between sTNXB protein levels and clinical symptoms like joint or skin abnormalities.
• Analyze novel cardiac abnormalities, such as persistent truncus arteriosus, observed in CAH-X patients.
• Compare muscle echogenicity findings between CAH-X patients and matched control CAH patients.

Strengths

• Dataset is based on a defined cohort of 155 CAH patients.
• Includes matched control patients for comparison based on age and BMI.
• Links genetic data (PCR screening) to clinical observations (echocardiography, muscle ultrasound).
• Released under a permissive CC-BY-4.0 license.

Limitations

• The dataset is very small at 15.4 KB, suggesting limited scope.
• Column-level documentation is absent; field semantics must be inferred after download.
• Row count is unknown, which may limit suitability assessment.

Provenance

Source

figshare

Collection Method

PCR screening and clinical examinations performed on a patient cohort.

Freshness

Last updated 2026-05-15 04:28:10.

Geography

Likely based on the Munich patient cohort.