{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T06:22:06Z","timestamp":1790230926314,"version":"4.1.0"},"reference-count":192,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2023,5,11]],"date-time":"2023-05-11T00:00:00Z","timestamp":1683763200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","award":["RS-2023-00208330"],"award-info":[{"award-number":["RS-2023-00208330"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","award":["322006-05-02-CG000"],"award-info":[{"award-number":["322006-05-02-CG000"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003624","name":"Ministry of Agriculture, Food and Rural Affairs","doi-asserted-by":"publisher","award":["RS-2023-00208330"],"award-info":[{"award-number":["RS-2023-00208330"]}],"id":[{"id":"10.13039\/501100003624","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003624","name":"Ministry of Agriculture, Food and Rural Affairs","doi-asserted-by":"publisher","award":["322006-05-02-CG000"],"award-info":[{"award-number":["322006-05-02-CG000"]}],"id":[{"id":"10.13039\/501100003624","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Turner syndrome (TS), a genetic disorder due to incomplete dosage compensation of X-linked genes, affects multiple organ systems, leading to hypogonadotropic hypogonadism, short stature, cardiovascular and vascular abnormalities, liver disease, renal abnormalities, brain abnormalities, and skeletal problems. Patients with TS experience premature ovarian failure with a rapid decline in ovarian function caused by germ cell depletion, and pregnancies carry a high risk of adverse maternal and fetal outcomes. Aortic abnormalities, heart defects, obesity, hypertension, and liver abnormalities, such as steatosis, steatohepatitis, biliary involvement, liver cirrhosis, and nodular regenerative hyperplasia, are commonly observed in patients with TS. The SHOX gene plays a crucial role in short stature and abnormal skeletal phenotype in patients with TS. Abnormal structure formation of the ureter and kidney is also common in patients with TS, and a non-mosaic 45,X karyotype is significantly associated with horseshoe kidneys. TS also affects brain structure and function. In this review, we explore various phenotypic and disease manifestations of TS in different organs, including the reproductive system, cardiovascular system, liver, kidneys, brain, and skeletal system.<\/jats:p>","DOI":"10.3390\/cells12101365","type":"journal-article","created":{"date-parts":[[2023,5,12]],"date-time":"2023-05-12T01:05:10Z","timestamp":1683853510000},"page":"1365","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":35,"title":["Organ Abnormalities Caused by Turner Syndrome"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1579-6393","authenticated-orcid":false,"given":"Sang Hoon","family":"Yoon","sequence":"first","affiliation":[{"name":"Department of Stem Cell and Regenerative Biotechnology, KU Institute of Technology, Konkuk University, Seoul 05029, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-3947-1583","authenticated-orcid":false,"given":"Ga Yeon","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Stem Cell and Regenerative Biotechnology, KU Institute of Technology, Konkuk University, Seoul 05029, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-0416-4036","authenticated-orcid":false,"given":"Gyu Tae","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Stem Cell and Regenerative Biotechnology, KU Institute of Technology, Konkuk University, Seoul 05029, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6721-1441","authenticated-orcid":false,"given":"Jeong Tae","family":"Do","sequence":"additional","affiliation":[{"name":"Department of Stem Cell and Regenerative Biotechnology, KU Institute of Technology, Konkuk University, Seoul 05029, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,5,11]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1749","DOI":"10.1056\/NEJM199612053352307","article-title":"Turner\u2019s syndrome","volume":"335","author":"Saenger","year":"1996","journal-title":"N. 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