Organ Abnormalities Caused by Turner Syndrome
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...
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MDPI AG
2023-05-01
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| Series: | Cells |
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| Online Access: | https://www.mdpi.com/2073-4409/12/10/1365 |
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| author | Sang Hoon Yoon Ga Yeon Kim Gyu Tae Choi Jeong Tae Do |
| author_facet | Sang Hoon Yoon Ga Yeon Kim Gyu Tae Choi Jeong Tae Do |
| author_sort | Sang Hoon Yoon |
| collection | DOAJ |
| description | 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 <i>SHOX</i> 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. |
| first_indexed | 2024-03-11T03:51:49Z |
| format | Article |
| id | doaj.art-82d505c922754c0b9ff5bd1c7fb12a5c |
| institution | Directory Open Access Journal |
| issn | 2073-4409 |
| language | English |
| last_indexed | 2024-03-11T03:51:49Z |
| publishDate | 2023-05-01 |
| publisher | MDPI AG |
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| series | Cells |
| spelling | doaj.art-82d505c922754c0b9ff5bd1c7fb12a5c2023-11-18T00:52:32ZengMDPI AGCells2073-44092023-05-011210136510.3390/cells12101365Organ Abnormalities Caused by Turner SyndromeSang Hoon Yoon0Ga Yeon Kim1Gyu Tae Choi2Jeong Tae Do3Department of Stem Cell and Regenerative Biotechnology, KU Institute of Technology, Konkuk University, Seoul 05029, Republic of KoreaDepartment of Stem Cell and Regenerative Biotechnology, KU Institute of Technology, Konkuk University, Seoul 05029, Republic of KoreaDepartment of Stem Cell and Regenerative Biotechnology, KU Institute of Technology, Konkuk University, Seoul 05029, Republic of KoreaDepartment of Stem Cell and Regenerative Biotechnology, KU Institute of Technology, Konkuk University, Seoul 05029, Republic of KoreaTurner 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 <i>SHOX</i> 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.https://www.mdpi.com/2073-4409/12/10/1365Turner syndromeX monosomyX chromosome inactivationorgan abnormalities |
| spellingShingle | Sang Hoon Yoon Ga Yeon Kim Gyu Tae Choi Jeong Tae Do Organ Abnormalities Caused by Turner Syndrome Cells Turner syndrome X monosomy X chromosome inactivation organ abnormalities |
| title | Organ Abnormalities Caused by Turner Syndrome |
| title_full | Organ Abnormalities Caused by Turner Syndrome |
| title_fullStr | Organ Abnormalities Caused by Turner Syndrome |
| title_full_unstemmed | Organ Abnormalities Caused by Turner Syndrome |
| title_short | Organ Abnormalities Caused by Turner Syndrome |
| title_sort | organ abnormalities caused by turner syndrome |
| topic | Turner syndrome X monosomy X chromosome inactivation organ abnormalities |
| url | https://www.mdpi.com/2073-4409/12/10/1365 |
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