Androgen Pathway Characteristics in 21-Hydroxylase Deficiency Patients

A study of 111 patients with confirmed 21-hydroxylase deficiency, analyzing steroid hormone profiles and metabolic pathway activities. The data includes robust standardized Z-scores for steroid hormones and results from k-means clustering analysis that stratified patients into well-controlled and poorly controlled groups. The dataset was authored by Hemeng Chong and last updated on 2026-05-11.

Use Cases

• Clustering patient groups based on steroid hormone profiles as described in the study.
• Analyzing the association between puberty and disease control status using multivariate analysis results.
• Comparing the relative weight of classical, 11-oxygenated, and backdoor androgen pathways between patient groups.
• Investigating the conversion efficiency of the 21-deoxycortisol pathway and CYP11B1 activity as potential biomarkers.

Strengths

• Includes data from 111 patients with a confirmed diagnosis of 21-hydroxylase deficiency.
• Analysis includes robust standardized Z-scores for steroid hormones and multivariate analysis with specific odds ratios (OR = 11.90).
• Results include specific percentage comparisons for pathway weights (63.92% vs. 46.19%).

Limitations

• Column-level documentation is absent; field semantics must be inferred after download.
• Row count is unknown, which may limit suitability assessment.
• The dataset is very small (26.0 KB), indicating limited scope.

Provenance

Source

figshare

Collection Method

Clinical data and steroid hormone profiles were collected from enrolled patients.

Freshness

Last updated 2026-05-11 04:27:23; freshness should be verified.