Centre for Interdisciplinary Research in Basic Sciences, Jamia Millia Islamia University, New Delhi, 110025, India.
Biomedical Informatics Centre, Indian Council of Medical Research-National Institute for Research in Reproductive and Child Health, Mumbai, Maharashtra, 400012, India.
Orphanet J Rare Dis. 2024 Aug 28;19(1):314. doi: 10.1186/s13023-024-03337-0.
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.
特纳综合征（TS）是表型女性中一条 X 染色体缺失所致，导致一系列并发症，如身材矮小、心血管问题、自身免疫性疾病、代谢失衡、骨质疏松、神经认知缺陷、听力损失、内分泌功能异常、不孕、骨代谢紊乱和神经认知缺陷。这些不同的临床表现需要采用全面和多学科的方法进行诊断和管理。生长激素治疗是解决 TS 相关挑战的基本治疗方法。不断发展的临床和基因组研究推动了对 TS 的认识不断演进，揭示了其复杂性和潜在的治疗干预措施。尽管取得了进展，但仍需要进一步研究来确定候选途径和关键生物标志物，以减轻该综合征的负担。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，我们探讨了与 TS 相关的常见合并症，并从当前文献中汲取了见解。
