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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10216333/ https://www.ncbi.nlm.nih.gov/pubmed/37408200 http://dx.doi.org/10.3390/cells12101365 |
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author | Yoon, Sang Hoon Kim, Ga Yeon Choi, Gyu Tae Do, Jeong Tae |
author_facet | Yoon, Sang Hoon Kim, Ga Yeon Choi, Gyu Tae Do, Jeong Tae |
author_sort | Yoon, Sang Hoon |
collection | PubMed |
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 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. |
format | Online Article Text |
id | pubmed-10216333 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-102163332023-05-27 Organ Abnormalities Caused by Turner Syndrome Yoon, Sang Hoon Kim, Ga Yeon Choi, Gyu Tae Do, Jeong Tae Cells Review 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. MDPI 2023-05-11 /pmc/articles/PMC10216333/ /pubmed/37408200 http://dx.doi.org/10.3390/cells12101365 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Yoon, Sang Hoon Kim, Ga Yeon Choi, Gyu Tae Do, Jeong Tae Organ Abnormalities Caused by Turner Syndrome |
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 | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10216333/ https://www.ncbi.nlm.nih.gov/pubmed/37408200 http://dx.doi.org/10.3390/cells12101365 |
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