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特纳综合征与骨质疏松症。

Turner syndrome and osteoporosis.

机构信息

Menopause Clinic, 2ndDepartment of Obstetrics and Gynecology, Medical School, National and Kapodistrian University of Athens, Athens, Greece.

Menopause Clinic, 2ndDepartment of Obstetrics and Gynecology, Medical School, National and Kapodistrian University of Athens, Athens, Greece.

出版信息

Maturitas. 2019 Dec;130:41-49. doi: 10.1016/j.maturitas.2019.09.010. Epub 2019 Sep 25.

Abstract

Turner syndrome is one of the most common sex chromosomal anomalies, characterized by the complete or partial loss of one X chromosome. Females with Turner syndrome are characterized by skeletal abnormalities, short stature and primary ovarian insufficiency. The aim of this narrative review was to identify the underlying mechanisms of osteoporosis in Turner syndrome, summarize its clinical manifestations and provide suggestions regarding the management of osteoporosis. Girls and women with Turner syndrome have lower bone mineral density and a higher fracture rate than healthy individuals. The most important risk factors for osteoporosis are inadequately treated primary ovarian insufficiency, followed by intrinsic bone abnormalities. Comorbidities that further increase the risk of osteoporosis include vitamin D deficiency, celiac disease and inflammatory bowel disease. In addition, hearing problems can predispose to falls. Early initiation of hormone replacement therapy (HRT) at the age of 11-13 years, prompt titration to the adult dose after 2 years and long-term follow-up to ensure compliance with HRT are the cornerstones of osteoporosis prevention in women with Turner syndrome.

摘要

特纳综合征是最常见的性染色体异常之一,其特征是一条 X 染色体完全或部分缺失。特纳综合征女性表现为骨骼异常、身材矮小和原发性卵巢功能不全。本综述旨在确定特纳综合征骨质疏松症的潜在机制,总结其临床表现,并就骨质疏松症的管理提供建议。特纳综合征女孩和妇女的骨密度低于正常人,骨折发生率更高。骨质疏松症最重要的危险因素是治疗不充分的原发性卵巢功能不全,其次是内在骨骼异常。进一步增加骨质疏松症风险的合并症包括维生素 D 缺乏、乳糜泻和炎症性肠病。此外,听力问题也容易导致跌倒。在 11-13 岁时尽早开始激素替代疗法(HRT),2 年后迅速滴定至成人剂量,并进行长期随访以确保 HRT 依从性,是预防特纳综合征女性骨质疏松症的基石。

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