Gu Wei, Zhao Xue
Department of Endocrinology, Genetics and Metabolism, Children's Hospital of Nanjing Medical University, Nanjing 210008, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2024 Nov 15;26(11):1135-1140. doi: 10.7499/j.issn.1008-8830.2407176.
There is a delay in the clinical diagnosis of Turner syndrome (TS), particularly for patients with mosaic karyotypes. This diagnostic delay can hinder age-appropriate treatments and lead to adverse health outcomes. Therefore, it is necessary to explore improvement measures for early diagnosis and treatment plans based on the current clinical situation. Furthermore, as research progresses, the focus of clinical diagnosis and treatment of TS is gradually expanding to multiple aspects, including cardiovascular health, fertility, and transitional care, in order to improve the prognosis and quality of life of the patients. This paper discusses the current clinical status and management key points of TS diagnosis and treatment, aiming to provide insights for improving the management of TS.
特纳综合征（TS）的临床诊断存在延迟，尤其是对于嵌合核型的患者。这种诊断延迟会阻碍适龄治疗并导致不良健康后果。因此，有必要根据当前临床情况探索早期诊断和治疗方案的改进措施。此外，随着研究的进展，TS临床诊断和治疗的重点正逐渐扩展到心血管健康、生育能力和过渡性护理等多个方面，以改善患者的预后和生活质量。本文讨论了TS诊断和治疗的当前临床状况及管理要点，旨在为改善TS的管理提供见解。
