克莱恩费尔特综合征。早期雄激素治疗对能力和行为表型的影响。
Klinefelter Syndrome. The Effects of Early Androgen Therapy on Competence and Behavioral Phenotype.
机构信息
Department of Urology, Weill Cornell Medicine, New York, NY, USA.
Division of Urology, Department of Surgery, University of Manitoba, Winnipeg, MB, Canada.
出版信息
Sex Med Rev. 2018 Oct;6(4):595-606. doi: 10.1016/j.sxmr.2018.02.008. Epub 2018 Apr 19.
INTRODUCTION
Klinefelter syndrome (KS) is the result of sex chromosome aneuploidy most often characterized as 47,XXY. The typical features of KS include tall stature, gynecomastia, small firm testicles, hypergonadotropic hypogonadism, and infertility. However, abnormalities in neurodevelopment, cognition, and social and behavioral functioning also can be present. The abnormalities in neurodevelopment are believed to be due in part to androgen deficiency during early development and puberty.
AIM
To discuss the role of androgens in normal adolescent development; discuss the cognitive, behavioral, and social functioning of children with KS; evaluate the evidence for early androgen therapy in men with KS; and discuss management strategies in the development of boys with KS.
METHODS
A systematic review of early androgen therapy and KS was performed using PubMed-Medline and Scopus databases. Relevant articles commenting on social, behavioral, cognitive, and physical outcomes among infants, children, and adolescents were included for reporting and discussion.
MAIN OUTCOME MEASURES
Social and behavior functioning; cognitive outcomes; adverse effects associated with androgen therapy.
RESULTS
3 retrospective articles and 2 randomized controlled trials addressing early androgen therapy in boys with KS were reviewed. These studies showed an improvement in several aspects of social and cognitive functioning based on validated questionnaires. Treatment strategies, potential negative effects, and limitations of the literature on early androgen therapy in boys with KS are discussed.
CONCLUSION
Our findings indicate that early androgen supplementation in children with KS combined with specific educational, family, and social support improves behavioral functioning. The optimal timing of hormonal therapy might require prospective studies, but based on our data and review of the literature, the benefit of early hormonal and therapeutic intervention in KS is very encouraging. Flannigan R, Patel P, Paduch DA. Klinefelter Syndrome. The Effects of Early Androgen Therapy on Competence and Behavioral Phenotype. Sex Med Rev 2018;6:595-606.
简介
克莱恩费尔特综合征（KS）是性染色体非整倍体的结果，最常见的特征是 47,XXY。KS 的典型特征包括身材高大、乳腺发育、小而结实的睾丸、促性腺激素性性腺功能减退和不育。然而，神经发育、认知、社会和行为功能也可能存在异常。神经发育异常部分归因于早期发育和青春期雄激素缺乏。
目的
讨论雄激素在正常青少年发育中的作用；讨论 KS 儿童的认知、行为和社会功能；评估 KS 男性早期雄激素治疗的证据；并讨论 KS 男孩发育过程中的管理策略。
方法
使用 PubMed-Medline 和 Scopus 数据库对早期雄激素治疗和 KS 进行系统评价。纳入了评论婴儿、儿童和青少年社会、行为、认知和身体结局的相关文章进行报告和讨论。
主要观察指标
社会和行为功能；认知结果；雄激素治疗相关的不良反应。
结果
共综述了 3 篇回顾性文章和 2 项随机对照试验，这些研究表明，基于经过验证的问卷，男孩 KS 早期雄激素治疗可改善多个方面的社会和认知功能。讨论了 KS 男孩早期雄激素治疗的治疗策略、潜在的负面效应和文献的局限性。
结论
我们的研究结果表明，KS 儿童早期雄激素补充治疗结合特定的教育、家庭和社会支持可以改善行为功能。激素治疗的最佳时机可能需要前瞻性研究，但根据我们的数据和文献复习，KS 中早期激素和治疗干预的益处非常令人鼓舞。Flannigan R, Patel P, Paduch DA. Klinefelter Syndrome. The Effects of Early Androgen Therapy on Competence and Behavioral Phenotype. Sex Med Rev 2018;6:595-606.
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