47,XXY(Klinefelter综合征[KS])是最常见的性染色体非整倍体(1:660),然而,尽管如此,只有25%的男性被诊断出来。患有47,XXY的男性在其一生中表现出特征性症状,典型的身体和神经发育表现集中在生长,认知发展,内分泌功能,和繁殖。研究表明,最佳结果取决于在整个生命周期中的早期检测以及一致和有针对性的神经发育治疗。在婴儿期和学龄前,47,XXY的个体通常面临早期荷尔蒙领域的生长和发育缺陷,电机,演讲,和行为发展。当他们过渡到学校时,主要的神经发育问题包括语言困难,执行功能障碍,行为,学习和阅读缺陷。47岁,XXY的成年人通常比平均身高高,低生育率,无精子症,和促性腺激素水平升高。这些表现可能从儿童早期一直持续到成年,但可以通过适当的干预措施来缓解。早期神经发育和激素治疗已被证明对47,XXY患者的身体和神经发育表现具有最小化的影响。通过创新和当前的研究,47,XXY的神经发育特征共有特征已进一步扩展和定义。需要进一步的研究来阐明和理解大脑之间的关系,行为,和47,XXY的表型特征。
47,XXY (Klinefelter syndrome [KS]) is the most common sex chromosomal aneuploidy (1:660), yet, despite this, only 25% of the males are ever diagnosed. Males with
47,XXY present with characteristic symptoms throughout their lifetime with typical physical and neurodevelopmental manifestations focused in growth, cognitive development, endocrine function, and reproduction. Studies have demonstrated that optimal outcomes are dependent on early detection combined with consistent and targeted neurodevelopmental treatment throughout the lifespan. During infancy and into the preschool years, individuals with
47,XXY commonly face deficits in growth and development in the areas of early hormonal, motor, speech, and behavioral development. As they transition into school, the primary neurodevelopmental concerns include language difficulty, executive dysfunction, behavior, and learning and reading deficits. Adults with
47,XXY often present with taller than average height, low levels of fertility, azoospermia, and elevated gonadotropin levels. These presentations may persist from early childhood through adulthood but can be mitigated by appropriate interventions. Early neurodevelopmental and hormonal treatment has been shown to have a minimizing effect on the physical and neurodevelopmental manifestations in individuals with
47,XXY. With innovative and current research studies, the features common to the neurodevelopmental profile of 47,XXY have been further expanded and defined. Further research is necessary to elucidate and understand the relationship between the brain, behavior, and the phenotypic profile of 47,XXY.