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特纳综合征的性激素治疗

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特纳综合征(Turner syndrome,TS)是由于X染色体的缺失或结构异常引起的一类疾病,此类患者性别表型为女性,主要临床表现包括身材矮小、原发性卵巢功能发育不全及智力和神经认知功能异常等.在临床上,性激素治疗常用于改善TS患者内分泌和代谢状态.TS患者存在独特的脑结构特征,伴有认知精神心理缺陷和生活质量受损等表现.性激素治疗对TS患者的脑认知和精神心理方面的影响总体上是积极的,可以在一定程度上"挽救"脑认知和精神心理受损的表型.具体来说,雌激素治疗可以一定程度上帮助TS患者脑结构发育轨迹"正常化",改善TS患者的认知处理速度、视觉空间处理能力和记忆,减少不良行为;雄激素治疗可以改善TS患者的工作记忆和严重计算学习障碍,同时不增加精神心理男性化的风险,这些研究为性激素替代治疗提供了更多依据.本文聚焦于TS患者性激素治疗及其对脑认知、精神心理和生活质量的影响,旨在为TS患者接受性激素治疗的短期和远期影响提供更多认识.
Sex hormone therapy for Turner syndrome
Turner syndrome(TS)is a disease caused by the absence or structural abnormalities of the X chromosome,manifesting as a female phenotype.Main clinical characteristics of TS patients include short stature,primary ovarian insufficiency,and abnormalities in intellectual and neurocognitive functions.Sex hormone therapy,including estrogens and androgens,is primarily used to improve the endocrine and met-abolic status of TS patients in clinical practice.Generally,TS patients exhibit an impaired profile in brain structure,cognition,mental health,and quality of life.And sex hormone therapy has an overall positive im-pact on the brain,cognition and mental health of TS patients,potentially rescuing the impaired phenotypes to a certain extent.Specifically,estrogen therapy can help normalize the brain development trajectory,improving cognitive processing speed,visual-spatial processing abilities and memory,and reducing negative behaviors.Testosterone therapy can improve working memory and severe mathematical learning disabilities,without in-creasing the risk of mental health masculinization.The above studies provide more evidence for sex hormone replacement therapy in TS patients.The effects of sex hormone therapy on the brain,cognition and mental health of TS patients were reviewed here,to highlight the importance of sex hormone therapy in TS patients.

Turner syndromeBrain structureCognitive functionMental diseaseQuality of lifeX chromosome

周智博、郑泽延、潘慧

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中国医学科学院 北京协和医学院 北京协和医院内分泌科,国家卫生健康委员会内分泌重点实验室,疑难重症及罕见病国家重点实验室,北京 100730

特纳综合征 脑结构 认知功能 精神心理疾病 生活质量 X染色体

2024

中华行为医学与脑科学杂志
中华医学会 济宁医学院

中华行为医学与脑科学杂志

CSTPCD北大核心
影响因子:1.472
ISSN:1674-6554
年,卷(期):2024.33(12)