Internal Medicine and Pediatrics, Ghent University and Department of Pediatrics, Division of Pediatric Endocrinology, Ghent University Hospital, 9000 Ghent, Belgium.
Internal Medicine and Pediatrics, Department of Pediatrics, Division of Pediatric Cardiology, Ghent University Hospital, Ghent University, 9000 Ghent, Belgium.
Int J Environ Res Public Health. 2021 Jan 21;18(3):917. doi: 10.3390/ijerph18030917.
Children born with sex chromosomal mosaicism including material derived from the Y chromosome may present with a broad phenotypical spectrum. Both boys and girls can present with Turner features and functional health problems typically associated with Turner syndrome, but the presence of Y-chromosomal material can modify some aspects of the condition. We retrospectively analyzed the results of our cohort of 21 individuals (14 boys, 7 girls) with sex chromosomal mosaicism including Y-derived material followed at Ghent University Hospital according to our local multidisciplinary Turner surveillance protocol. Results were compared with literature data, focusing on similarities and differences between girls and boys with this condition. Age at diagnosis was lower in boys compared to girls but the difference was not significant. Short stature is a key feature of the condition both in girls and boys, but skeletal maturation may be different between groups. The effects of growth-hormone therapy remain unclear. Cardiac (33%), ear-nose- throat (ENT) (77.8%) and renal (28.6%) problems were as prevalent in boys as in girls from our cohort, and did not differ from literature data. In line with literature reports, a significant difference in the presence of premalignant germ cell tumors between males (0%) and females (42.9%) was found ( = 0.026). Taken together, this study demonstrates the similarities between girls with Turner syndrome and children with sex chromosomal mosaicism including Y-derived material, regardless of the child's gender. Nowadays, girls with Turner syndrome are offered a dedicated multidisciplinary follow-up in many centers. We advocate a similar follow-up program for all children who have sex chromosomal mosaicism that includes Y-derived material, with special attention to growth, cardiac and ear-nose-throat problems, gonadal function and malignancies.
患有性染色体嵌合体的儿童，包括源自 Y 染色体的物质，可能表现出广泛的表型谱。男孩和女孩都可能出现特纳特征和与特纳综合征相关的功能性健康问题，但 Y 染色体物质的存在可以改变该病症的某些方面。我们根据当地的多学科特纳监测方案，对在根特大学医院接受随访的 21 名（14 名男孩，7 名女孩）患有性染色体嵌合体（包括源自 Y 染色体的物质）的个体的队列结果进行了回顾性分析。结果与文献数据进行了比较，重点关注了患有这种疾病的男孩和女孩之间的相似点和不同点。与女孩相比，男孩的诊断年龄较低，但差异无统计学意义。身材矮小是该病症的一个关键特征，无论是男孩还是女孩，但两组之间的骨骼成熟度可能不同。生长激素治疗的效果仍不清楚。我们队列中的男孩和女孩的心脏（33%）、耳鼻喉（ENT）（77.8%）和肾脏（28.6%）问题与文献数据相似，并无差异。与文献报道一致，我们发现，来自我们队列的男性（0%）和女性（42.9%）之间存在良性生殖细胞肿瘤的比例存在显著差异（ = 0.026）。总的来说，这项研究表明，无论孩子的性别如何，患有特纳综合征的女孩与患有性染色体嵌合体（包括源自 Y 染色体的物质）的儿童之间存在相似之处。如今，许多中心都为患有特纳综合征的女孩提供了专门的多学科随访。我们主张为所有患有性染色体嵌合体（包括源自 Y 染色体的物质）的儿童制定类似的随访计划，特别关注生长、心脏和耳鼻喉问题、性腺功能和恶性肿瘤。
