Choi Jung Eun, Park Mi Jung, Yu Jeesuk, Kim Hae Soon
Department of Pediatrics, College of Medicine, Ewha Womans University, Seoul, Korea.
Department of Pediatrics, Dr. Park Mijung's Child Growth Clinic, Seoul, Korea.
Ann Pediatr Endocrinol Metab. 2024 Oct;29(5):308-315. doi: 10.6065/apem.2346246.123. Epub 2024 Oct 31.
Short stature is the main characteristic of Turner syndrome (TS) patients and growth hormone (GH) therapy has been essential for achieving the final adult height (Ht). In the present study, the response of TS patients with different types of karyotype abnormalities to GH therapy was analyzed.
The clinical parameters of 194 TS patients registered in the LG Growth Study were retrospectively reviewed. Data for 4 groups of subjects were obtained as follows: monosomy X (n=56); X structural abnormality (n=26); X mosaicism without structural abnormality (n=41); X mosaicism with structural abnormality (n=71). Clinical characteristics and growth response parameters were compared over 3 years of GH treatment.
The baseline Ht standard deviation score (SDS) of all patients was -2.85±0.86. The baseline Ht SDS, body mass index SDS, and chronological age (years)-bone age (years) were significantly different based on chromosomal abnormalities. The growth velocity (GV; cm/yr) in the first year was the highest and significantly different among the groups. The GV in the second year also showed an increase in the X mosaicism without structural abnormality group compared with the monosomy X group. The change in Ht SDS (ΔHt SDS) over 3 years was not statistically different between karyotypes.
The response to 3 years of GH therapy did not differ based on the karyotype of TS patients although the initial Ht SDS was the lowest in the monosomy X group.
身材矮小是特纳综合征（TS）患者的主要特征，生长激素（GH）治疗对于实现最终成人身高（Ht）至关重要。在本研究中，分析了不同核型异常类型的TS患者对GH治疗的反应。
回顾性分析了LG生长研究中登记的194例TS患者的临床参数。获得了4组受试者的数据如下：X单体（n = 56）；X结构异常（n = 26）；无结构异常的X嵌合体（n = 41）；有结构异常的X嵌合体（n = 71）。比较了GH治疗3年期间的临床特征和生长反应参数。
所有患者的基线Ht标准差评分（SDS）为-2.85±0.86。根据染色体异常，基线Ht SDS、体重指数SDS和实足年龄（岁）-骨龄（岁）存在显著差异。第一年的生长速度（GV；cm/年）最高，且各组之间存在显著差异。与X单体组相比，无结构异常的X嵌合体组第二年的GV也有所增加。不同核型之间3年期间Ht SDS的变化（ΔHt SDS）无统计学差异。
尽管X单体组的初始Ht SDS最低，但TS患者对3年GH治疗的反应并不因核型而异。
