Shankar Roopa Kanakatti, Backeljauw Philippe F
Assistant Professor, Division of Pediatric Endocrinology, Department of Pediatrics, Children's Hospital of Richmond at Virginia Commonwealth University, Richmond, VA, USA.
Cincinnati Center for Pediatric and Adult Turner Syndrome Care, Professor, Division of Pediatric Endocrinology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.
Ther Adv Endocrinol Metab. 2018 Jan;9(1):33-40. doi: 10.1177/2042018817746291. Epub 2017 Dec 18.
Turner syndrome (TS) is characterized by partial or complete loss of the second X-chromosome in phenotypic females resulting in a constellation of clinical findings that may include lymphedema, cardiac anomalies, short stature, primary ovarian failure and neurocognitive difficulties. Optimizing health care delivery is important to enable these individuals achieve their full potential. We review the current best practice management recommendations for individuals with TS focusing on the latest consensus opinion in regard to genetic diagnosis, treatment of short stature, estrogen supplementation, addressing psychosocial issues, as well screening for other comorbidities. A multidisciplinary approach and a well-planned transition to adult follow-up care will improve health care delivery significantly for this population.
特纳综合征（TS）的特征是表型女性的第二条X染色体部分或完全缺失，导致一系列临床症状，可能包括淋巴水肿、心脏异常、身材矮小、原发性卵巢功能衰竭和神经认知障碍。优化医疗服务对于使这些个体充分发挥潜力很重要。我们回顾了目前针对TS患者的最佳实践管理建议，重点关注关于基因诊断、身材矮小的治疗、雌激素补充、解决心理社会问题以及筛查其他合并症的最新共识意见。多学科方法以及精心规划向成人后续护理的过渡将显著改善该人群的医疗服务。
