Zhang Ying, Yang Yongchen, Li Pin, Guo Sheng
Department of Endocrinology, Shanghai Children's Hospital, Shanghai Jiaotong University, Shanghai, China.
Department of Laboratory Medicine, Shanghai Children's Hospital, Shanghai Jiaotong University, Shanghai, China.
PeerJ. 2021 Dec 9;9:e12354. doi: 10.7717/peerj.12354. eCollection 2021.
Turner syndrome (TS) affects 1/2,500 live-born female infants. In the present study, we attempted to clarify the relationship between genetic factors (especially the X-chromosome origin), clinical features, body/sexual development, and treatment outcomes. We enrolled 39 female infants aged between 3 and 14 years. General demographic and clinical features were documented, and laboratory analysis of blood samples was performed. Subject karyotype was determined by G-banding of 50 peripheral white blood cells, and the parenteral origin of the retained X-chromosome was determined. Next, growth hormone (GH) treatment was prescribed for 12 months, with follow-ups performed as determined. For patient groups separated according to X-chromosome origin, the basal height, bone age, insulin-like growth factor (IGF)-1, and insulin-like growth factor binding protein-3 (IGFBP-3) levels were comparable; however, after the 12-month treatment, significant differences in the height increase and IGF-1 levels were observed. If the X-chromosome (or chromosomes) originated from both parents, the increase in height was less substantial, with lower serum IGF-1 levels. The uterine size, prolactin level, increased weight after treatment, and bone age difference after treatment negatively correlated with the mother's age at the time of birth. The mother's height at the time of birth demonstrated a negative correlation with the basal bone age difference and a positive correlation with the IGF-1 level. In summary, the retained X-chromosome derived from both parents is associated with poorer response to GH therapy. The mother's age and height at the time of birth can strongly impact the patient's body/sexual development and the response to GH treatment. Thus, the mother's age and height at the time of birth and the parental origin of the X-chromosome should be carefully considered before developing a treatment plan for TS.
特纳综合征（TS）影响着1/2500的活产女婴。在本研究中，我们试图阐明遗传因素（尤其是X染色体来源）、临床特征、身体/性发育以及治疗结果之间的关系。我们纳入了39名年龄在3至14岁之间的女婴。记录了一般人口统计学和临床特征，并对血样进行了实验室分析。通过对50个外周白细胞进行G显带确定受试者的核型，并确定保留的X染色体的亲本来源。接下来，给予生长激素（GH）治疗12个月，并根据需要进行随访。对于根据X染色体来源分开的患者组，基础身高、骨龄、胰岛素样生长因子（IGF）-1和胰岛素样生长因子结合蛋白-3（IGFBP-3）水平具有可比性；然而，在12个月的治疗后，观察到身高增长和IGF-1水平存在显著差异。如果X染色体（或多条染色体）来自父母双方，身高增长则不太显著，血清IGF-1水平较低。子宫大小、催乳素水平、治疗后体重增加以及治疗后的骨龄差异与母亲分娩时的年龄呈负相关。母亲分娩时的身高与基础骨龄差异呈负相关，与IGF-1水平呈正相关。总之，来自父母双方的保留X染色体与对GH治疗的反应较差有关。母亲分娩时的年龄和身高会强烈影响患者的身体/性发育以及对GH治疗的反应。因此，在为TS制定治疗计划之前，应仔细考虑母亲分娩时的年龄和身高以及X染色体的亲本来源。
