性染色体非整倍性(SCA)是由非典型数目的X和/或Y染色体引起的染色体变异。合并,SCA影响约1/400活产,包括Klinefelter综合征患者(47,XXY),特纳综合征(45,X和变体),双Y综合征(47,XYY),三体X(47,XXX),和罕见的四体病和五体病。有SCA的人经历了各种各样的身体健康,心理健康,以及与标准人群不同的医疗保健经验。为了了解SCA社区的优先事项,我们调查了两个大型SCA注册中心的参与者,特纳综合症指导医疗保健的鼓舞人心的新科学(INSIGHTS)注册和X和Y变异纵向分析(GALAXY)注册的进步。来自美国13个站点的303/629名(48.1%的回应率)个人对调查做出了回应,包括251名护理人员和52名自我倡导者,年龄从3周到73岁,代表包括特纳综合征在内的SCA,XXX,XXY,XYY,XXYY,并结合了罕见的四体和五体病。结果表明,SCA社区确定的身体健康和情绪/行为健康的优先事项,以及首选的研究类型。所有SCA亚型都表示干预研究是重中之重,强调研究人员需要专注于临床治疗,以响应SCA社区的优先事项。
■支持本研究结果的数据可应相应作者的要求提供。这项研究由特纳综合症全球联盟资助,X和Y染色体变异的关联,与XXY一起生活,XXYY项目,和科罗拉多大学医学院儿科系。NIH/NCATS科罗拉多州CTSA授权号UM1TR004399支持数据收集和存储。作者没有任何利益冲突需要披露。这项研究由科罗拉多州多机构审查委员会(COMIRB#20-0482和#19-3027)审查和批准。所有参与者提供知情同意书参与-18岁以下的参与者在任何研究程序之前与父母知情同意书一起提供了同意。内容由作者自行负责,不一定代表NIH的官方观点。
Sex chromosome aneuploidies (SCAs) are chromosomal variations that result from an atypical number of X and/or Y chromosomes. Combined, SCAs affect ~1/400 live births, including individuals with Klinefelter syndrome (47,XXY), Turner syndrome (45,X and variants), Double Y syndrome (47,XYY), Trisomy X (47,XXX), and rarer tetrasomies and pentasomies. Individuals with SCAs experience a wide variety of physical health, mental health, and healthcare experiences that differ from the standard population. To understand the priorities of the SCA community we surveyed participants in two large SCA registries, the Inspiring New Science in Guiding Healthcare in Turner Syndrome (INSIGHTS) Registry and the Generating Advancements in Longitudinal Analysis in X and Y Variations (GALAXY) Registry. 303/629 (48.1% response rate) individuals from 13 sites across the United States responded to the survey, including 251 caregivers and 52 self-advocates, with a range of ages from 3 weeks to 73 years old and represented SCAs including Turner syndrome, XXX, XXY, XYY, XXYY, and combined rare tetrasomies and pentasomies. Results demonstrate the priorities for physical health and emotional/behavioral health identified by the SCA community, as well as preferred types of research. All SCA subtypes indicated intervention studies as the top priority, emphasizing the need for researchers to focus on clinical treatments in response to priorities of the SCA community.