Phenotyping and hierarchical clustering in genetically unresolved DSD identifies distinct multisystem clinical subgroups—a DSDgene study
Chrysanthi Kouri, Malika Allimussina, S Faisal Ahmed, Christa E Flück · 2026
Read Phenotyping and hierarchical clustering in genetically unresolved DSD identifies distinct multisystem clinical subgroups—a DSDgene study by Chrysanthi Kouri, Malika Allimussina, S Faisal Ahmed, Christa E Flück (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13621179.txt.
Description
Chrysanthi Kouri and three co-authors searched for patterns among people with differences of sex development who have no genetic diagnosis, in a 2026 study. Using registry data, they focused on 345 individuals who also had at least one extra organ anomaly. Most had a 46,XY chromosome pattern.
The team grouped cases by their physical traits and also matched them against profiles of two known conditions. Small size at birth was the most common extra finding, followed by heart, brain, and kidney anomalies. Clustering produced five groups, including ones dominated by face and head traits or by nervous system traits. About eleven percent resembled one known deficiency profile, which may guide future gene hunting.
Catalog record
| CREATOR | Chrysanthi Kouri, Malika Allimussina, S Faisal Ahmed, Christa E Flück |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 35 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |