{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T09:57:58Z","timestamp":1790675878089,"version":"4.1.0"},"reference-count":80,"publisher":"The Endocrine Society","issue":"10","license":[{"start":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T00:00:00Z","timestamp":1789430400000},"content-version":"vor","delay-in-days":12,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,9,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Context<\/jats:title>\n                    <jats:p>A substantial proportion of individuals with differences of sex development (DSD) remain without an identifiable molecular diagnosis. Systematic phenotyping may reveal clinically relevant patterns and inform genomic investigation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To identify phenotypic patterns among individuals with genetically unresolved DSD and determine whether multisystem anomalies form distinct clinical clusters and exhibit overlap with established DSD-associated conditions.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design<\/jats:title>\n                    <jats:p>Data from the I-DSD Registry were analyzed for individuals with 46,XY or 46,XX DSD lacking a molecular diagnosis. A 3-part approach was used: (1) unsupervised hierarchical clustering based on Gower distance; (2) supervised phenotype-guided classification using reference profiles for NR5A1\/SF-1 deficiency and P450 oxidoreductase deficiency (PORD); and (3) exploratory comparison with Human Phenotype Ontology (HPO)-derived profiles of established DSD-associated genes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Among 1391 screened individuals, 345 (24.8%) fulfilled inclusion criteria, including the presence of at least 1 additional organ anomaly, 83.8% had a 46,XY karyotype. The most frequent associated findings were small for gestational age (28.1%), cardiac anomalies (21.4%), central nervous system (CNS) (15.7%), and renal anomalies (14.5%). Unsupervised clustering identified 5 phenotypic groups, including craniofacial-dominant and CNS-dominant clusters. Phenotype-guided classification showed overlap with SF-1-deficiency-associated phenotypes in 11% of cases and with PORD-associated phenotypes in 22%. Comparison with HPO-derived profiles of 81 DSD-associated genes demonstrated phenotypic similarities between several clusters and known gene-associated anomaly spectra.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Systematic phenotyping identifies recognizable patterns of multisystem involvement in genetically unresolved DSD. Several clusters overlap with established DSD-associated conditions and gene-specific anomaly profiles, supporting phenotype-driven surveillance, multidisciplinary care, and informing future genomic re-evaluation strategies.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1210\/jendso\/bvag214","type":"journal-article","created":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T11:21:46Z","timestamp":1789384906000},"source":"Crossref","is-referenced-by-count":0,"title":["Phenotyping and hierarchical clustering in genetically unresolved DSD identifies distinct multisystem clinical subgroups\u2014a DSDgene study"],"prefix":"10.1210","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7225-593X","authenticated-orcid":false,"given":"Chrysanthi","family":"Kouri","sequence":"first","affiliation":[{"name":"Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern , Bern 3010 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