The spectrum of growth abnormalities in children with 18q deletions
The spectrum of growth abnormalities in children with 18q deletions
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DOI：
10.1210/jc.85.12.4450
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发表时间：
2000-12-01
影响因子：
5.8
通讯作者：
Leach, RJ
中科院分区：
文献类型：
--
作者：
Hale, DE;Cody, JD;Leach, RJ
本研究的目的是评估18 q缺失儿童的生长异常谱。通过测定身高、生长速度、胰岛素样生长因子I（IGF-I）、胰岛素样生长因子结合蛋白-3、骨成熟以及对垂体兴奋剂GH的反应，研究了50名经细胞遗传学和分子学证实存在18 q缺失的个体的生长轴。18 q缺失的儿童身材矮小; 64%的身高比平均值低-2 SD以上。受影响的儿童也生长缓慢; 68%的生长速度低于平均值-1 SD以上。一半的人有延迟的骨成熟。生长因子向下倾斜; 72%的IGF-I值和83%的IGF结合蛋白-3值低于实际年龄的平均值。同样，72%的儿童对生长激素兴奋剂精氨酸和可乐定的反应减少或不存在。在50名儿童中，只有2名儿童的所有参数均正常。身材矮小和生长不良是18 q缺失个体的共同特征。生长激素缺乏症在这组患者中很常见，并且可能在许多受影响的个体中看到的身材矮小中起作用。
The objective of this study was to assess the spectrum of growth abnormalities in children with 18q deletions. The growth axis of 50 individuals with a cytogenetically and molecularly confirmed 18q deletion was investigated by determining height, growth velocity, insulin-like growth factor I (IGF-I), IGF-binding protein-3, bone maturation, and response to pituitary stimulants of GH.Children with 18q deletions are short; 64% have a height more than -2 SD below the mean. Affected children also grow slowly; 68% have a growth velocity more than -1 SD below the mean. Half of the individuals have delayed bone maturation. Growth factors are skewed downward; 72% of the IGF-I values and 83% of the IGF-binding protein-3 values are below the mean for chronological age. Similarly, 72% of the children had a reduced or absent response to either of the the GH stimulants, arginine and clonidine. In the total group of 50 children only 2 were normal for all parameters evaluated.Short stature and poor growth are common features of individuals with 18q deletions. GH deficiency is common in this cohort of patients and probably plays a role in the short stature seen in many of the affected individuals.