Division of Pediatric Endocrinology, Department of Pediatrics, Tripler Army Medical Center, Honolulu, Hawaii 96859-5000, USA.
J Clin Endocrinol Metab. 2012 Jun;97(6):E994-1003. doi: 10.1210/jc.2012-1245. Epub 2012 Apr 3.
Turner syndrome (TS), in which there is loss of all or part of one sex chromosome, occurs in one in 2500 live-born females and is associated with characteristic findings. Detailed healthcare checklists and screening guidelines are commonly used to detect known complications affecting individuals with TS. Even with the use of these guidelines, there remains an increased morbidity and mortality seen in TS as compared to the general population, leading to significant controversy on optimal management of several aspects of TS.
A PubMed search of articles from the past 15 yr identified available studies related to the diagnosis and management of common issues related to TS as well as important historical articles. This review summarizes studies through January 2012 and highlights recent developments.
There remain many areas of uncertainty in the diagnosis and management of TS. Generalizations from experience in the care of other conditions in isolation (such as poor growth, follow-up of cardiac disease, or the treatment of ovarian failure) cannot be broadly applied when caring for individuals with TS. Specific differences include treatment of growth failure as early as possible; acquisition of adequate baseline cardiac studies, followed by serial magnetic resonance imaging, targeted to identify findings unique to TS that address the increased risk of aortic dissection; initiation of hormone replacement at the normal age of puberty, preferentially with transdermal estradiol; and detailed patient counseling to explain the long-term health risks commonly associated with this disorder. A revised paradigm of care using a standardized multidisciplinary evaluation, supplementing screening tests as advocated by expert opinion guidelines, can aid clinicians in interpreting the results of diagnostic testing in the context of TS. This approach optimizes medical care for women with TS and may reduce the increased morbidity and mortality currently seen in this population.
特纳综合征（TS）是一种性染色体全部或部分缺失的疾病，发病率为每 2500 例活产女婴中一例，其具有特征性表现。详细的医疗保健检查表和筛查指南常用于发现已知的影响 TS 患者的并发症。即使使用这些指南，TS 患者的发病率和死亡率仍高于普通人群，这导致了对 TS 多个方面的最佳管理存在显著争议。
通过对过去 15 年的 PubMed 文章进行检索，确定了与 TS 常见问题的诊断和管理相关的现有研究以及重要的历史文献。本综述总结了截至 2012 年 1 月的研究，并强调了最近的进展。
在 TS 的诊断和管理方面仍存在许多不确定的领域。当照顾 TS 患者时，不能将从其他疾病（如生长不良、心脏病随访或卵巢衰竭治疗）的护理经验中孤立地概括出一般性的结论。具体差异包括尽早治疗生长不良；获得充分的基线心脏研究，然后进行系列磁共振成像，以识别 TS 特有的发现，从而解决主动脉夹层的风险增加；在正常青春期年龄开始激素替代治疗，优先选择经皮雌二醇；并对患者进行详细的咨询，解释与该疾病相关的常见长期健康风险。使用标准化的多学科评估和专家意见指南中倡导的补充筛查测试来修订护理模式，可以帮助临床医生根据 TS 的具体情况解释诊断测试的结果。这种方法优化了 TS 患者的医疗保健，可能会降低该人群目前的发病率和死亡率。
