{"doi":"10.17615/6dc3-j371","title":"Prevalence, diagnostic features, and medical outcomes of females with Turner syndrome with a trisomy X cell line (45,X/47,XXX): Results from the InsighTS Registry","abstract":"Turner syndrome (TS) is defined by partial or complete absence of a sex chromosome. Little is known about the phenotype of individuals with TS mosaic with trisomy X (45,X/47,XXX or 45,X/46,XX/47,XXX) (~3% of TS). We compared the diagnostic, perinatal, medical, and neurodevelopmental comorbidities of mosaic 45,X/47,XXX (n = 35, 9.4%) with nonmosaic 45,X (n = 142) and mosaic 45,X/46,XX (n = 66). Females with 45,X/47,XXX had fewer neonatal concerns and lower prevalence of several TS-related diagnoses compared with 45,X; however the prevalence of neurodevelopmental and psychiatric diagnoses were not different. Compared to females with 45,X/46,XX, the 45,X/47,XXX group was significantly more likely to have structural renal anomalies (18% vs. 3%; p = 0.03). They were twice as likely to have congenital heart disease (32% vs. 15%, p = 0.08) and less likely to experience spontaneous menarche (46% vs. 75% of those over age 10, p = 0.06), although not statistically significant. Congenital anomalies, hypertension, and hearing loss were primarily attributable to a higher proportion of 45,X cells, while preserved ovarian function was most associated with a higher proportion of 46,XX cells. In this large TS cohort, 45,X/47,XXX was more common than previously reported, individuals were phenotypically less affected than those with 45,X, but did have trends for several more TS-related diagnoses than individuals with 45,X/46,XX.","journal":"UNC Libraries","year":2025,"id":578158,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":0,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.8165,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2025-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1488206,"name":"Marybel Good","orcid":null,"position":1,"is_corresponding":false},{"id":800766,"name":"Catherina T. Pinnaro","orcid":"0000-0001-6450-0918","position":2,"is_corresponding":false},{"id":919807,"name":"Roopa Kanakatti Shankar","orcid":"0000-0001-9653-8865","position":3,"is_corresponding":false},{"id":544030,"name":"Siddharth K. Prakash","orcid":"0000-0001-6341-9624","position":4,"is_corresponding":false},{"id":278330,"name":"Nicole Tartaglia","orcid":"0000-0002-8529-6722","position":5,"is_corresponding":false},{"id":1200459,"name":"Wendy J. Brickman","orcid":null,"position":6,"is_corresponding":false},{"id":1199358,"name":"Karen O. Klein","orcid":"0000-0002-7953-4691","position":7,"is_corresponding":false},{"id":739736,"name":"Vaneeta Bamba","orcid":"0000-0003-4747-6949","position":8,"is_corresponding":false},{"id":1488207,"name":"Kelly C. Ranallo","orcid":null,"position":9,"is_corresponding":false},{"id":1333389,"name":"Alexandra Carl","orcid":"0009-0006-1157-4554","position":10,"is_corresponding":false},{"id":1115660,"name":"Samantha Bothwell","orcid":"0000-0002-1616-8137","position":11,"is_corresponding":false},{"id":278326,"name":"Shanlee Davis","orcid":"0000-0002-0304-9550","position":12,"is_corresponding":false},{"id":1488208,"name":"Natalia Klamut","orcid":null,"position":13,"is_corresponding":false},{"id":818205,"name":"Susan Howell","orcid":"0000-0001-7115-2165","position":14,"is_corresponding":false},{"id":919803,"name":"Iris Gutmark‐Little","orcid":"0000-0003-0135-4516","position":15,"is_corresponding":false},{"id":600784,"name":"Jennifer Law","orcid":"0000-0001-9956-7178","position":16,"is_corresponding":false},{"id":880926,"name":"Patricia Y. Fechner","orcid":"0000-0002-1243-8304","position":0,"is_corresponding":true}],"reference_count":0,"raw_metadata":null,"created_at":"2026-07-19T02:58:20.638044Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}