Division of Endocrinology, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, Missouri, USA.
Division of Gynecology, Department of Surgery, Children's Mercy Kansas City, Kansas City, Missouri, USA.
Sex Dev. 2022;16(1):19-26. doi: 10.1159/000518092. Epub 2021 Aug 10.
Individuals with 45,X mosaicism with Y chromosome material raised as boys are not diagnosed with Turner syndrome, a label restricted to phenotypic females. We sought to determine if boys with 45,X mosaicism had features consistent with Turner syndrome. Twenty-two patients (14 girls, 8 boys) seen in our Differences of Sex Development (DSD) clinic were identified for review. Standardized height (z-scores) by sex of rearing and results of cardiology, renal, audiology, thyroid, and celiac screenings were recorded. All subjects had heights below the mean for sex. Z-scores were not significantly different between boys and girls (p = 0.185). There were no significant differences in the incidence of cardiac anomalies between boys and girls (p = 0.08). Girls were more likely to have additional screenings (p = 0.042), but there were no significant differences in the number of positive screenings between boys and girls (p = 0.332). Patients with 45,X mosaicism raised as boys appear to have features similar to patients with the same karyotype raised as girls. Routine screening of boys following the Turner Syndrome Clinical Practice Guidelines may allow early recognition of comorbidities. Additionally, obtaining karyotypes on boys with short stature or other features of Turner syndrome may identify unrecognized cases of 45,X mosaicism.
个体存在 45,X 嵌合体伴 Y 染色体物质，被抚养为男孩，不会被诊断为特纳综合征，这是一个仅限于表型女性的标签。我们试图确定患有 45,X 嵌合体的男孩是否具有特纳综合征的特征。我们在差异性别发育（DSD）诊所中对 22 名患者（14 名女孩，8 名男孩）进行了回顾性研究。记录了按性别进行的标准化身高（z 分数）和心脏病学、肾脏、听力学、甲状腺和乳糜泻筛查的结果。所有患者的身高均低于相应性别的平均值。男孩和女孩之间的 z 分数没有显著差异（p = 0.185）。男孩和女孩之间心脏异常的发生率没有显著差异（p = 0.08）。女孩更有可能进行额外的筛查（p = 0.042），但男孩和女孩之间的阳性筛查数量没有显著差异（p = 0.332）。被抚养为男孩的 45,X 嵌合体患者似乎具有与具有相同核型的被抚养为女孩的患者相似的特征。遵循特纳综合征临床实践指南对男孩进行常规筛查可能有助于早期识别合并症。此外，对身材矮小或具有特纳综合征其他特征的男孩进行染色体核型分析可能会发现未被识别的 45,X 嵌合体病例。
