Turner Syndrome where are we?

IF 3.4 2区 医学 Q2 GENETICS & HEREDITY Orphanet Journal of Rare Diseases Pub Date : 2024-08-28 DOI:10.1186/s13023-024-03337-0
Najma Khan, Anam Farooqui, Romana Ishrat
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Abstract

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.

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特纳综合征
特纳综合征(Turner Syndrome,TS)是由于表型女性的一条 X 染色体缺失,导致一系列并发症,如身材矮小、心血管问题、自身免疫紊乱、代谢失衡、骨质疏松症、神经认知障碍、听力损失、内分泌功能异常、不孕不育、骨代谢紊乱和神经认知障碍。由于这些临床表现多种多样,因此有必要采用多学科综合方法进行诊断和治疗。生长激素疗法是应对 TS 相关挑战的基本疗法。临床和基因组学的不断进步有助于人们不断加深对 TS 的了解,揭示其复杂性和潜在的治疗干预措施。尽管取得了进展,但进一步的研究对于确定可减轻该综合征负担的候选途径和关键生物标志物至关重要。通过揭示这些见解,我们旨在增强 TS 患者的能力,提高他们的整体功能和生活质量。在这篇综述中,我们从现有文献中汲取灵感,探讨了与 TS 相关的常见并发症。
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来源期刊
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases 医学-医学:研究与实验
CiteScore
6.30
自引率
8.10%
发文量
418
审稿时长
4-8 weeks
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.
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