Department of Research, The Focus Foundation, 1251 W Central Ave. Suite A #190, Davidsonville, MD 21035, USA.
Division of Neurogenetics and Developments Pediatrics, Children's National Health System, 111 Michigan Ave. NW, Washington, DC 20010, USA.
Genes (Basel). 2023 Jul 6;14(7):1402. doi: 10.3390/genes14071402.
47,XXY, also known as Klinefelter syndrome, is the most commonly occurring sex chromosomal aneuploidy (SCA). Hormonal replacement therapy (HRT) has been associated with improved neurodevelopmental capabilities in boys with 47,XXY, although studies investigating HRT's possible positive effect on behavioral outcomes are scarce. This study explores the association between behavioral outcomes and HRT in boys ages 7-12. Patients were divided into 4 groups based on HRT status: untreated, early hormonal treatment (EHT), hormonal booster therapy (HBT), and both EHT and HBT. Analysis of Variance (ANOVA) and Kruskal-Wallis tests were conducted to determine group differences on the Child Behavior Checklist (CBCL) and the Behavior Rating Inventory of Executive Function (BRIEF). The treated groups were found to have better scores in emotional control, initiative, organization of materials, behavioral rating index, metacognition index, and global executive composite than the untreated group on the BRIEF. On the CBCL, the treated groups presented better scores for somatic complaints, social problems, thought problems, attention problems, aggressive behavior, internalizing problems, total problems, affective problems, somatic problems, ADHD problems, oppositional defiant problems, and sluggish problems in comparison to the untreated group. These results offer evidence that HRT, specifically the combination of both EHT and HBT, may be successful in mitigating some undesirable behavioral outcomes. Further research is necessary to determine the efficacy of the combination of EHT and HBT regarding dosage, specific ages, and long-term benefits.
47,XXY，也被称为克莱恩费尔特综合征，是最常见的性染色体非整倍体（SCA）。激素替代疗法（HRT）已被证明可改善 47,XXY 男孩的神经发育能力，尽管研究 HRT 对行为结果的可能积极影响的研究很少。本研究探讨了 HRT 与 7-12 岁男孩行为结果之间的关系。根据 HRT 状况，将患者分为 4 组：未治疗、早期激素治疗（EHT）、激素助推器治疗（HBT）以及 EHT 和 HBT 均治疗。方差分析（ANOVA）和 Kruskal-Wallis 检验用于确定儿童行为检查表（CBCL）和执行功能行为评定量表（BRIEF）上各组之间的差异。与未治疗组相比，治疗组在 BRIEF 上的情绪控制、主动性、材料组织、行为评定指数、元认知指数和整体执行综合方面的得分更好。在 CBCL 上，与未治疗组相比，治疗组的躯体抱怨、社会问题、思维问题、注意力问题、攻击行为、内化问题、总问题、情感问题、躯体问题、ADHD 问题、对立违抗性问题和反应迟缓问题的得分更好。这些结果表明，HRT，特别是 EHT 和 HBT 的联合治疗，可能成功减轻一些不良行为结果。需要进一步研究确定 EHT 和 HBT 联合治疗的疗效，包括剂量、特定年龄和长期益处。
