While the most common Sex Chromosome Aneuploidy (SCA) is 47,XXY, other variations, such as 48,XXYY, are less studied, perhaps due to its rarity. 48,XXYY occurs with an estimated prevalence of 1:18,000–40,000 male births. This SCA is associated with a variety of complex physical, psychological, and neuroanatomical findings. The purpose of this integrative review is to summarize the available evidence related to 48,XXYY and identify gaps in the literature. This study utilized integrative review and PRISMA‐guided methodology to search six databases for information pertaining to 48,XXYY. There were no exclusion criteria related to design methodology, given the paucity of available research. Among 397 articles reviewed for potential inclusion, 30 articles remained after inclusion and exclusion criteria were applied. Seven of these articles concentrated solely on participants with 48,XXYY. Literature was summarized into categories of physical phenotype, psychosocial, behavioral, neurocognitive, and brain function. Clinical description of 48,XXYY has evolved over time to develop a deeper understanding of this complex disorder. Large gaps remain, especially a lack of experimental studies, clinical guidelines, and treatments. Additionally, few studies explore methodologies such as interviews or self‐report surveys in this population. 48,XXYY presents with a wide spectrum of physical, psychological, and neurocognitive symptoms, and frequently requires complex interdisciplinary care. In order to better understand this disorder and to appropriately treat the individuals affected by it, future research should focus on experimental studies and research that utilizes a variety of methods, including participant interviews and patient‐report surveys.

中文翻译：

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罕见的性染色体变异48，XXYY：综合审查。

尽管最常见的性染色体非整倍性（SCA）是47，XXY，但其他变体，例如48，XXYY，由于其稀有性而很少研究。48，XXYY发生，估计患病率为1：18,000–40,000男性出生。这种SCA与各种复杂的生理，心理和神经解剖学发现有关。本综合综述的目的是总结与48，XXYY相关的可用证据并找出文献中的空白。这项研究利用综合评价和PRISMA指导的方法在六个数据库中搜索与48，XXYY有关的信息。鉴于现有研究很少，因此没有与设计方法有关的排除标准。在397篇可能被纳入的文章中，有30篇在纳入和排除标准后仍然有效。这些文章中有七篇仅针对48，XXYY的参与者。文献总结为物理表型，社会心理，行为，神经认知和脑功能的类别。48，XXYY的临床描述已随着时间的推移而发展，以加深对该复杂疾病的了解。差距仍然很大，尤其是缺乏实验研究，临床指南和治疗方法。此外，很少有研究探索该人群中的方法，例如访谈或自我报告调查。48，XXYY表现出广泛的生理，心理和神经认知症状，并经常需要复杂的跨学科护理。为了更好地了解这种疾病并适当治疗受其影响的个人，