Department of Endocrinology and Internal Medicine and Medical Research Laboratories, Aarhus University Hospital, 8000 Aarhus C, Denmark.
Endocrine. 2012 Apr;41(2):200-19. doi: 10.1007/s12020-011-9569-8. Epub 2011 Dec 7.
The cardinal features of Turner syndrome (TS) are short stature, congenital abnormalities, infertility due to gonadal dysgenesis, with sex hormone insufficiency ensuing from premature ovarian failure, which is involved in lack of proper development of secondary sex characteristics and the frequent osteoporosis seen in Turner syndrome. But sex hormone insufficiency is also involved in the increased cardiovascular risk, state of physical fitness, insulin resistance, body composition, and may play a role in the increased incidence of autoimmunity. Severe morbidity and mortality affects females with Turner syndrome. Recent research emphasizes the need for proper sex hormone replacement therapy (HRT) during the entire lifespan of females with TS and new hypotheses concerning estrogen receptors, genetics and the timing of HRT offers valuable new information. In this review, we will discuss the effects of estrogen and androgen insufficiency as well as the effects of sex HRT on morbidity and mortality with special emphasis on evidence based research and areas needing further studies.
特纳综合征(TS)的主要特征是身材矮小、先天性异常、性腺发育不良导致的不孕,继而出现因卵巢早衰导致的性激素不足,这涉及到第二性征的发育不良和特纳综合征中常见的骨质疏松症。但性激素不足也与心血管风险增加、身体状况、胰岛素抵抗、身体成分有关,并且可能与自身免疫发病率增加有关。特纳综合征女性的严重发病率和死亡率会受到影响。最近的研究强调了在 TS 女性的整个生命周期中进行适当的性激素替代疗法(HRT)的必要性,并且关于雌激素受体、遗传学和 HRT 时机的新假设提供了有价值的新信息。在这篇综述中,我们将讨论雌激素和雄激素不足的影响,以及性激素 HRT 对发病率和死亡率的影响,特别强调基于证据的研究和需要进一步研究的领域。