A Review of Recent Developments in Turner Syndrome Research

Turner syndrome is a rare disorder resulting from complete or partial loss of the second sex chromosome. Common manifestations include delayed growth, premature ovarian failure, congenital heart defects, endocrine disorders, lymphedema, and webbed neck. People with Turner syndrome have significantly...

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Autores principales:	Allen C. Huang, Susan B. Olson, Cheryl L. Maslen
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	Turner syndrome cardiovascular genetics epigenetics Diseases of the circulatory (Cardiovascular) system RC666-701
Acceso en línea:	https://doaj.org/article/92f7b20829ae4cf280c878c403a48d3c
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spelling	oai:doaj.org-article:92f7b20829ae4cf280c878c403a48d3c2021-11-25T18:00:13ZA Review of Recent Developments in Turner Syndrome Research10.3390/jcdd81101382308-3425https://doaj.org/article/92f7b20829ae4cf280c878c403a48d3c2021-10-01T00:00:00Zhttps://www.mdpi.com/2308-3425/8/11/138https://doaj.org/toc/2308-3425Turner syndrome is a rare disorder resulting from complete or partial loss of the second sex chromosome. Common manifestations include delayed growth, premature ovarian failure, congenital heart defects, endocrine disorders, lymphedema, and webbed neck. People with Turner syndrome have significantly increased mortality risk primarily due to cardiovascular abnormalities. The mechanisms that lead to these defects are not completely understood and are obscured by the significant variability of both karyotype and phenotype without consistent correlation between the two. This paper presents a review of the recent literature surrounding the symptoms, mechanisms, diagnosis, and treatment of Turner syndrome with a focus on cardiovascular manifestations. With technological advancements in genetics, the molecular processes of Turner syndrome have begun to be dissected. Certain genes on the X chromosome that typically escape inactivation have been implicated in both specific manifestations and broader risk categories. Recently identified genome-wide epigenetic changes may help explain the variability in presentation. It remains unclear as to how the combination of these factors results in the overall clinical picture, but advances in genomic, genetic, epigenetic, and -omics technology hold promise for providing insights that will improve the medical management of individuals with Turner syndrome.Allen C. HuangSusan B. OlsonCheryl L. MaslenMDPI AGarticleTurner syndromecardiovasculargeneticsepigeneticsDiseases of the circulatory (Cardiovascular) systemRC666-701ENJournal of Cardiovascular Development and Disease, Vol 8, Iss 138, p 138 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Turner syndrome cardiovascular genetics epigenetics Diseases of the circulatory (Cardiovascular) system RC666-701
spellingShingle	Turner syndrome cardiovascular genetics epigenetics Diseases of the circulatory (Cardiovascular) system RC666-701 Allen C. Huang Susan B. Olson Cheryl L. Maslen A Review of Recent Developments in Turner Syndrome Research
description	Turner syndrome is a rare disorder resulting from complete or partial loss of the second sex chromosome. Common manifestations include delayed growth, premature ovarian failure, congenital heart defects, endocrine disorders, lymphedema, and webbed neck. People with Turner syndrome have significantly increased mortality risk primarily due to cardiovascular abnormalities. The mechanisms that lead to these defects are not completely understood and are obscured by the significant variability of both karyotype and phenotype without consistent correlation between the two. This paper presents a review of the recent literature surrounding the symptoms, mechanisms, diagnosis, and treatment of Turner syndrome with a focus on cardiovascular manifestations. With technological advancements in genetics, the molecular processes of Turner syndrome have begun to be dissected. Certain genes on the X chromosome that typically escape inactivation have been implicated in both specific manifestations and broader risk categories. Recently identified genome-wide epigenetic changes may help explain the variability in presentation. It remains unclear as to how the combination of these factors results in the overall clinical picture, but advances in genomic, genetic, epigenetic, and -omics technology hold promise for providing insights that will improve the medical management of individuals with Turner syndrome.
format	article
author	Allen C. Huang Susan B. Olson Cheryl L. Maslen
author_facet	Allen C. Huang Susan B. Olson Cheryl L. Maslen
author_sort	Allen C. Huang
title	A Review of Recent Developments in Turner Syndrome Research
title_short	A Review of Recent Developments in Turner Syndrome Research
title_full	A Review of Recent Developments in Turner Syndrome Research
title_fullStr	A Review of Recent Developments in Turner Syndrome Research
title_full_unstemmed	A Review of Recent Developments in Turner Syndrome Research
title_sort	review of recent developments in turner syndrome research
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/92f7b20829ae4cf280c878c403a48d3c
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A Review of Recent Developments in Turner Syndrome Research

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