{"title":"特纳综合征","authors":"Najma Khan, Anam Farooqui, Romana Ishrat","doi":"10.1186/s13023-024-03337-0","DOIUrl":null,"url":null,"abstract":"<p><p>Turner syndrome (TS) results from the loss of one X chromosome in phenotypic females, leading to a range of complications such as short stature, cardiovascular issues, autoimmune disorders, metabolic imbalances, osteoporosis, neurocognitive deficits, hearing loss, abnormalities in endocrine functions, infertility, disruptions in bone metabolism, and neurocognitive deficits. These diverse clinical manifestations necessitate a comprehensive and multidisciplinary approach to diagnosis and management. Growth hormone therapy stands out as a fundamental treatment for addressing the challenges associated with TS. Ongoing clinical and genomic advancements contribute to an evolving understanding of TS, shedding light on its complexities and potential therapeutic interventions. Despite progress, further research is crucial to identify candidate pathways and critical biomarkers that can alleviate the syndrome's burden. By uncovering these insights, we aim to empower individuals with TS, enhancing their overall functioning and quality of life. In this review, we have explored the prevalent co-morbidities associated with TS, drawing insights from the current literature.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":null,"pages":null},"PeriodicalIF":3.4000,"publicationDate":"2024-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11351000/pdf/","citationCount":"0","resultStr":"{\"title\":\"Turner Syndrome where are we?\",\"authors\":\"Najma Khan, Anam Farooqui, Romana Ishrat\",\"doi\":\"10.1186/s13023-024-03337-0\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Turner syndrome (TS) results from the loss of one X chromosome in phenotypic females, leading to a range of complications such as short stature, cardiovascular issues, autoimmune disorders, metabolic imbalances, osteoporosis, neurocognitive deficits, hearing loss, abnormalities in endocrine functions, infertility, disruptions in bone metabolism, and neurocognitive deficits. These diverse clinical manifestations necessitate a comprehensive and multidisciplinary approach to diagnosis and management. Growth hormone therapy stands out as a fundamental treatment for addressing the challenges associated with TS. Ongoing clinical and genomic advancements contribute to an evolving understanding of TS, shedding light on its complexities and potential therapeutic interventions. Despite progress, further research is crucial to identify candidate pathways and critical biomarkers that can alleviate the syndrome's burden. By uncovering these insights, we aim to empower individuals with TS, enhancing their overall functioning and quality of life. In this review, we have explored the prevalent co-morbidities associated with TS, drawing insights from the current literature.</p>\",\"PeriodicalId\":19651,\"journal\":{\"name\":\"Orphanet Journal of Rare Diseases\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":3.4000,\"publicationDate\":\"2024-08-28\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11351000/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Orphanet Journal of Rare Diseases\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1186/s13023-024-03337-0\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Orphanet Journal of Rare Diseases","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1186/s13023-024-03337-0","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Turner syndrome (TS) results from the loss of one X chromosome in phenotypic females, leading to a range of complications such as short stature, cardiovascular issues, autoimmune disorders, metabolic imbalances, osteoporosis, neurocognitive deficits, hearing loss, abnormalities in endocrine functions, infertility, disruptions in bone metabolism, and neurocognitive deficits. These diverse clinical manifestations necessitate a comprehensive and multidisciplinary approach to diagnosis and management. Growth hormone therapy stands out as a fundamental treatment for addressing the challenges associated with TS. Ongoing clinical and genomic advancements contribute to an evolving understanding of TS, shedding light on its complexities and potential therapeutic interventions. Despite progress, further research is crucial to identify candidate pathways and critical biomarkers that can alleviate the syndrome's burden. By uncovering these insights, we aim to empower individuals with TS, enhancing their overall functioning and quality of life. In this review, we have explored the prevalent co-morbidities associated with TS, drawing insights from the current literature.
期刊介绍:
Orphanet Journal of Rare Diseases is an open access, peer-reviewed journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes high-quality reviews on specific rare diseases. In addition, the journal may consider articles on clinical trial outcome reports, either positive or negative, and articles on public health issues in the field of rare diseases and orphan drugs. The journal does not accept case reports.