Clinical phenotype and management of individuals with mosaic monosomy X with Y chromosome material stratified by genital phenotype.
Clinical phenotype and management of individuals with mosaic monosomy X with Y chromosome material stratified by genital phenotype.
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具有生殖器表型分层的Y染色体材料的镶嵌X的个体的临床表型和管理。
DOI：
10.1002/ajmg.a.62127
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发表时间：
2021-05
期刊：
影响因子：
--
通讯作者：
Davis SM
中科院分区：
文献类型：
--
作者：
Guzewicz L;Howell S;Crerand CE;Umbaugh H;Nokoff NJ;Barker J;Davis SM
X单体嵌合体的个体和Y染色体材料的细胞系可以具有表现为女性、男性或模糊的生殖器。具有这种核型和典型女性生殖器的人被诊断为特纳综合征，但该定义明确排除了具有非典型女性生殖器的人。关于在生殖器表型中具有单体X和Y染色体材料的个体之间是否相似的医疗和神经发育风险的信息有限。这项多中心回顾性研究比较了具有X和Y单体物质和男性/不明生殖器的个体与具有典型女性生殖器的个体的合并症和临床管理。提取了美国两个大型儿科中心的所有X和Y单体材料患者（n=76）的电子病历，以获得预定的数据和结局。Logistic回归分析用于比较两个表型组，调整了随访部位和持续时间。男性/不明生殖器组与女性生殖器组一样可能患有先天性心脏病（RR 1.0，95%CI [0.5-1.9]）、自身免疫性疾病（RR 0.6 [0.2-1.3]）和神经发育障碍（RR 1.4 [0.8-1.2]）。尽管有类似的风险，但他们不太可能接受筛查和咨询。总之，无论生殖器如何，具有单体X和Y染色体材料的个体相对于特纳综合征个体具有相似的医学和神经发育风险，但在临床管理方面存在显着差异。
Individuals mosaic for monosomy X and a cell line with Y chromosome material can have genitalia that appear phenotypical female, male or ambiguous. Those with this karyotype and typical female genitalia are diagnosed with Turner syndrome, however this definition specifically excludes those with genitalia other than typical female. There is limited information on whether medical and neurodevelopmental risks are similar among individuals with monosomy X and Y chromosome material across genital phenotypes. This multicenter retrospective study compared comorbidities and clinical management in individuals with monosomy X and Y material and male/ambiguous genitalia to those with typical female genitalia. Electronic medical records for all patients with monosomy X and Y material (n=76) at two large U.S. pediatric centers were abstracted for predetermined data and outcomes. Logistic regression was used to compare the two phenotypic groups adjusting for site and duration of follow up. The male/ambiguous genitalia group was just as likely to have congenital heart disease (RR 1.0, 95%CI [0.5–1.9]), autoimmune disease (RR 0.6 [0.2–1.3]), and neurodevelopmental disorders (RR 1.4 [0.8–1.2]) as those with female genitalia. Despite similar risks, they were less likely to receive screening and counseling. In conclusion, individuals with monosomy X and Y chromosome material have similar medical and neurodevelopmental risks relative to individuals with Turner syndrome regardless of genitalia, but there are notable differences in clinical management.
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