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特纳综合征——向成年期过渡时需考虑的问题。

Turner syndrome--issues to consider for transition to adulthood.

作者信息

Lucaccioni Laura, Wong Sze Choong, Smyth Arlene, Lyall Helen, Dominiczak Anna, Ahmed S Faisal, Mason Avril

机构信息

Developmental Endocrinology Research Group, School of Medicine, University of Glasgow, Dalnair Street, Glasgow, UK.

Turner Syndrome Support Society, 12 Simpson Court, Clydebank, UK.

出版信息

Br Med Bull. 2015 Mar;113(1):45-58. doi: 10.1093/bmb/ldu038. Epub 2014 Dec 22.

DOI:10.1093/bmb/ldu038
PMID:25533182
Abstract

BACKGROUND

Turner syndrome (TS) is associated with a spectrum of health problems across the age span, which requires particular attention during the transition period in these adolescents.

AREAS OF AGREEMENT

The majority of girls with TS require oestrogen replacement from puberty onwards, which is important for adequate feminization, uterine development and maintenance of bone health. There is a lifetime increased risk from autoimmune conditions like hypothyroidism, coeliac disease, hearing loss and aortic dilatation with the potential to lead to aortic dissection. A systematic and holistic approach to provision of health care in TS is needed.

AREAS OF CONTROVERSY

Several unanswered questions remain, including the choice of hormone replacement therapy in the young person with TS and in adulthood; the optimal mode of cardiovascular assessment; the best management and assessment prior to and during pregnancy.

AREAS TIMELY FOR DEVELOPING RESEARCH

The optimal model of care and transition to adult services in TS requires attention. Further research is needed in relation to cardiovascular risk assessment, pregnancy management and hormone replacement therapy in TS.

摘要

背景

特纳综合征(TS)与各个年龄段的一系列健康问题相关,在这些青少年的过渡期需要特别关注。

共识领域

大多数患有TS的女孩从青春期开始就需要雌激素替代治疗,这对于充分女性化、子宫发育和维持骨骼健康很重要。患自身免疫性疾病(如甲状腺功能减退、乳糜泻、听力损失和主动脉扩张,后者可能导致主动脉夹层)的终生风险增加。需要一种系统且全面的方法来为TS患者提供医疗保健。

争议领域

仍有几个未解决的问题,包括TS青少年及成年患者激素替代疗法的选择;心血管评估的最佳模式;怀孕前及怀孕期间的最佳管理和评估。

适合开展研究的领域

TS的最佳护理模式以及向成人服务的过渡需要关注。关于TS的心血管风险评估、妊娠管理和激素替代疗法还需要进一步研究。

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