摘要
Turner综合征是一种女性罕见病,与普通人群相比,Turner综合征患者各种伴发疾病的发病率和病死率均增加。尽管大多数患者有明显的临床表现,但仍有许多患者诊断延迟。近年来Turner综合征存在双重诊断,也给疾病的诊治带来困难。目前关于Turner综合征的研究已经取得一定进展,且涵盖了Turner综合征管理的所有专业领域,但仍有许多问题需要未来进一步研究,包括Turner综合征的遗传基础、潜在的致病机制、开始激素替代治疗的最佳年龄和剂量以及维持内源的生育潜力等。
Turner syndrome is a rare condition in women.Morbidity and mortality are increased in women with Turner syndrome compared with the general population.Although most patients have obvious clinical manifestations, there are still many patients with delayed diagnosis.In recent years, Turner syndrome has double diagnosis, which also causes trouble to the diagnosis and treatment.However, numerous important clinical advances have been achieved, covering all specialty fields involved in the Turner syndrome management, although many problems still need to be further studied, such as the genetic underpinnings of Turner syndrome, the underlying pathogenesis, the optimal age and dose to start hormone replacement therapy, as well as the maintenance of endogenous fertility potential.
作者
秦淼
巩纯秀
刘莹
QIN Miao;GONG Chunxiu;LIU Ying(Dapartment of Endocrinology,Genetics and Metabolism,Beijing Children′s Hospital,the Capital Medical University/National Center for Children′s Health,Beijing 100045,China;Department of Pharmacy,Beijing Children′s Hospital,the Capital Medical University/National Center for Children′s Health,Beijing 100045,China)
出处
《医学综述》
CAS
2021年第17期3467-3472,共6页
Medical Recapitulate
基金
重大新药创制科技重大专项(2017ZX09304029-001-002)。
