The Changing Face of Turner Syndrome
Turner syndrome (TS) is a condition in females missing the second sex chromosome (45,X) or parts thereof. It is considered a rare genetic condition and is associated with a wide range of clinical stigmata, such as short stature, ovarian dysgenesis, delayed puberty and infertility, congenital malform...
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| Veröffentlicht in: | Endocrine reviews 2023-01, Vol.44 (1), p.33-69 |
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| creator | Gravholt, Claus H Viuff, Mette Just, Jesper Sandahl, Kristian Brun, Sara van der Velden, Janielle Andersen, Niels H Skakkebaek, Anne |
| description | Turner syndrome (TS) is a condition in females missing the second sex chromosome (45,X) or parts thereof. It is considered a rare genetic condition and is associated with a wide range of clinical stigmata, such as short stature, ovarian dysgenesis, delayed puberty and infertility, congenital malformations, endocrine disorders, including a range of autoimmune conditions and type 2 diabetes, and neurocognitive deficits. Morbidity and mortality are clearly increased compared with the general population and the average age at diagnosis is quite delayed. During recent years it has become clear that a multidisciplinary approach is necessary toward the patient with TS. A number of clinical advances has been implemented, and these are reviewed. Our understanding of the genomic architecture of TS is advancing rapidly, and these latest developments are reviewed and discussed. Several candidate genes, genomic pathways and mechanisms, including an altered transcriptome and epigenome, are also presented.
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Graphical Abstract |
| doi_str_mv | 10.1210/endrev/bnac016 |
| format | Article |
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Graphical Abstract
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Graphical Abstract
Graphical Abstract</description><subject>Cognition</subject><subject>Congenital defects</subject><subject>Congenital heart disease</subject><subject>Denmark</subject><subject>Diabetes mellitus (non-insulin dependent)</subject><subject>Diabetes Mellitus, Type 2 - complications</subject><subject>Endocrine disorders</subject><subject>Endocrine System Diseases</subject><subject>Epidemiology</subject><subject>Female</subject><subject>Genetic aspects</subject><subject>Genetic disorders</subject><subject>Genomics</subject><subject>Health aspects</subject><subject>Hormone therapy</subject><subject>Hormones, Sex</subject><subject>Humans</subject><subject>Infertility</subject><subject>Morbidity</subject><subject>Mortality</subject><subject>Puberty</subject><subject>Sex chromosomes</subject><subject>Transcriptomes</subject><subject>Turner syndrome</subject><subject>Turner Syndrome - complications</subject><subject>Turner Syndrome - diagnosis</subject><subject>Turner Syndrome - genetics</subject><subject>Turner's syndrome</subject><subject>Type 2 diabetes</subject><issn>0163-769X</issn><issn>1945-7189</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkUtLAzEURoMoWh9blzKgC11Mm0wmr2UpvqDgwgruQiZzU0c6Sc10BP-9Ka0KIshdXLice_jgQ-iU4CEpCB6BryO8jypvLCZ8Bw2IKlkuiFS7aJAuNBdcPR-gw657xRiXWKp9dEAZV0xgMkAXsxfIJi_Gzxs_z26MhSy4bNZHDzF7_Ej20MIx2nNm0cHJdh-hp5vr2eQunz7c3k_G09yWHK_yJMVMmIKKiilubMmYlKYua0u4VGmIqQShTkJBQRimmHK8NlXluLMOM3qELjfeZQxvPXQr3TadhcXCeAh9pwsumJKlpCSh57_Q15BCp3S6kIpwRqmUP9TcLEA33oVVNHYt1WPBJS4UEUWihn9QaWpoGxs8uCbd_3qwMXRdBKeXsWlN_NAE63UtelOL3taSHs62afuqhfob_-ohAVcbIPTL_2SfcRmUWA</recordid><startdate>20230112</startdate><enddate>20230112</enddate><creator>Gravholt, Claus H</creator><creator>Viuff, Mette</creator><creator>Just, Jesper</creator><creator>Sandahl, Kristian</creator><creator>Brun, Sara</creator><creator>van der Velden, Janielle</creator><creator>Andersen, Niels H</creator><creator>Skakkebaek, Anne</creator><general>Oxford University Press</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QG</scope><scope>7QL</scope><scope>7QP</scope><scope>7T5</scope><scope>7TK</scope><scope>7TM</scope><scope>8FD</scope><scope>C1K</scope><scope>FR3</scope><scope>H94</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0001-6574-4893</orcidid><orcidid>https://orcid.org/0000-0001-5924-1720</orcidid><orcidid>https://orcid.org/0000-0002-3708-2949</orcidid><orcidid>https://orcid.org/0000-0002-3825-0000</orcidid><orcidid>https://orcid.org/0000-0002-0071-3575</orcidid><orcidid>https://orcid.org/0000-0002-5394-3016</orcidid><orcidid>https://orcid.org/0000-0001-9178-4901</orcidid><orcidid>https://orcid.org/0000-0001-9421-9289</orcidid></search><sort><creationdate>20230112</creationdate><title>The Changing Face of Turner Syndrome</title><author>Gravholt, Claus H ; Viuff, Mette ; Just, Jesper ; Sandahl, Kristian ; Brun, Sara ; van der Velden, Janielle ; Andersen, Niels H ; Skakkebaek, Anne</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c460t-569057a237b596ac45588ad4dc16898981ab713f8e23e7a5959f6dabbf6fcf053</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2023</creationdate><topic>Cognition</topic><topic>Congenital defects</topic><topic>Congenital heart disease</topic><topic>Denmark</topic><topic>Diabetes mellitus (non-insulin dependent)</topic><topic>Diabetes Mellitus, Type 2 - complications</topic><topic>Endocrine disorders</topic><topic>Endocrine System Diseases</topic><topic>Epidemiology</topic><topic>Female</topic><topic>Genetic aspects</topic><topic>Genetic disorders</topic><topic>Genomics</topic><topic>Health aspects</topic><topic>Hormone therapy</topic><topic>Hormones, Sex</topic><topic>Humans</topic><topic>Infertility</topic><topic>Morbidity</topic><topic>Mortality</topic><topic>Puberty</topic><topic>Sex chromosomes</topic><topic>Transcriptomes</topic><topic>Turner syndrome</topic><topic>Turner Syndrome - complications</topic><topic>Turner Syndrome - diagnosis</topic><topic>Turner Syndrome - genetics</topic><topic>Turner's syndrome</topic><topic>Type 2 diabetes</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Gravholt, Claus H</creatorcontrib><creatorcontrib>Viuff, Mette</creatorcontrib><creatorcontrib>Just, Jesper</creatorcontrib><creatorcontrib>Sandahl, Kristian</creatorcontrib><creatorcontrib>Brun, Sara</creatorcontrib><creatorcontrib>van der Velden, Janielle</creatorcontrib><creatorcontrib>Andersen, Niels H</creatorcontrib><creatorcontrib>Skakkebaek, Anne</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Animal Behavior Abstracts</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Immunology Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Technology Research Database</collection><collection>Environmental Sciences and Pollution Management</collection><collection>Engineering Research Database</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Endocrine reviews</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Gravholt, Claus H</au><au>Viuff, Mette</au><au>Just, Jesper</au><au>Sandahl, Kristian</au><au>Brun, Sara</au><au>van der Velden, Janielle</au><au>Andersen, Niels H</au><au>Skakkebaek, Anne</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The Changing Face of Turner Syndrome</atitle><jtitle>Endocrine reviews</jtitle><addtitle>Endocr Rev</addtitle><date>2023-01-12</date><risdate>2023</risdate><volume>44</volume><issue>1</issue><spage>33</spage><epage>69</epage><pages>33-69</pages><issn>0163-769X</issn><eissn>1945-7189</eissn><abstract>Turner syndrome (TS) is a condition in females missing the second sex chromosome (45,X) or parts thereof. 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Graphical Abstract
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| ispartof | Endocrine reviews, 2023-01, Vol.44 (1), p.33-69 |
| issn | 0163-769X 1945-7189 |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Oxford University Press Journals All Titles (1996-Current); Alma/SFX Local Collection |
| subjects | Cognition Congenital defects Congenital heart disease Denmark Diabetes mellitus (non-insulin dependent) Diabetes Mellitus, Type 2 - complications Endocrine disorders Endocrine System Diseases Epidemiology Female Genetic aspects Genetic disorders Genomics Health aspects Hormone therapy Hormones, Sex Humans Infertility Morbidity Mortality Puberty Sex chromosomes Transcriptomes Turner syndrome Turner Syndrome - complications Turner Syndrome - diagnosis Turner Syndrome - genetics Turner's syndrome Type 2 diabetes |
| title | The Changing Face of Turner Syndrome |
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