Bone Health and Pubertal Induction in Turner Syndrome: The Possibility of Earlier Transdermal Lower-Dose Estradiol Therapy for Healthy Bone Density and Quality.

IF 4.4 3区 医学 Q2 GENETICS & HEREDITY
Yukihiro Hasegawa, Kento Ikegawa, Takeshi Munenaga, Tomoyo Itonaga, Marie Mitani-Konno, Masanobu Kawai, Naoko Amano
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引用次数: 0

Abstract

The effect of estrogen deficiency on bone health in Turner syndrome (TS) may be a concern even before adulthood. Previous guidelines have discussed hormone replacement therapy (HRT) in children with TS. However, some practical issues related to puberty induction in TS require clarification, such as how to implement HRT to achieve adequate bone health. It is generally assumed that earlier initiation of HRT will result in better bone health in young adults with TS and estrogen deficiency. The present study reviews pubertal development, bone health, and current pubertal induction therapies in TS, with a particular focus on patients without endogenous estrogen production. Current guidelines recommend using transdermal estradiol patches starting at the age of 11-12 years if necessary to mimic the gradual increase in circulating, physiological estradiol. Theoretically, earlier therapy combined with forecasting estrogen deficiency on the basis of increased FSH may allow a closer approximation to endogenous estradiol secretion in patients with TS without spontaneous puberty. This approach may lead to better long-term outcomes, such as the acquisition of normal bone mineral density. Further research is needed to assess how the achievement of normal bone density and bone quality relates to the timing of HRT in children and young adults with TS. The resulting improvements in transdermal estradiol therapy may help patients with TS achieve optimal bone health.

特纳综合征的骨健康和青春期诱导:早期经皮低剂量雌二醇治疗健康骨密度和质量的可能性。
雌激素缺乏对特纳综合征(TS)患者骨骼健康的影响可能在成年前就已引起关注。先前的指南讨论了TS儿童的激素替代疗法(HRT),然而,一些与TS青春期诱导相关的实际问题需要澄清,例如如何实施HRT以实现足够的骨骼健康。一般认为,早期开始激素替代疗法会使患有TS和雌激素缺乏的年轻成年人的骨骼健康状况更好。本研究综述了TS患者的青春期发育、骨骼健康和目前的青春期诱导治疗,特别关注无内源性雌激素产生的患者。目前的指南建议,如果有必要,从11-12岁开始使用透皮雌二醇贴剂来模拟循环中生理性雌二醇的逐渐增加。从理论上讲,早期治疗结合FSH升高预测雌激素缺乏,可以更接近无自发性青春期TS患者的内源性雌二醇分泌。这种方法可能导致更好的长期结果,如获得正常的骨矿物质密度。需要进一步的研究来评估儿童和青年TS患者正常骨密度和骨质量的实现与HRT的时机之间的关系。经皮雌二醇治疗的改善可能有助于TS患者实现最佳的骨骼健康。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
7.00
自引率
0.00%
发文量
42
审稿时长
>12 weeks
期刊介绍: Seminars in Medical Genetics, Part C of the American Journal of Medical Genetics (AJMG) , serves as both an educational resource and review forum, providing critical, in-depth retrospectives for students, practitioners, and associated professionals working in fields of human and medical genetics. Each issue is guest edited by a researcher in a featured area of genetics, offering a collection of thematic reviews from specialists around the world. Seminars in Medical Genetics publishes four times per year.
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