Population-based estimates of the global prevalence and carrier frequency of apparent mineralocorticoid excess caused by 11β-hydroxysteroid dehydrogenase type 2 deficiency
This study provides the first global, ancestry-stratified estimates of AME carrier frequency and prevalence, revealing variability by ancestry and variant classification. Results highlight the need for improved variant curation and broader population representation in genomic research.
Authors
- Nipith Charoenngam (ORCID: https://orcid.org/0000-0002-6501-6180)
- Chalermkiat Kansuttiviwat (ORCID: https://orcid.org/0000-0002-1119-845X)
- Palinee Chinsawangwatanakul
Institutions
- Prince of Songkla University (TH)
- Siriraj Hospital (TH)
- Harvard University (US)
- Mahidol University (TH)
- University Hospitals of Cleveland (US)
- Massachusetts General Hospital (US)
- Case Western Reserve University (US)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-11-28
- DOI
- https://doi.org/10.1186/s13023-025-04160-x
- Primary Topic
- Hormonal Regulation and Hypertension
- Type
- article
- Field-Weighted Citation Impact
- 0.00