Lee Chih-Fand, Su Pen-Hua, Chen Jia-Yuh, Chen Suh-Jen, Yang Kai-Chi, Lin Li-Ling
Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan.
Acta Paediatr Taiwan. 2006 Nov-Dec;47(6):312-6.
Chromosomal analysis is routinely considered in all girls--but not boys-of short stature to screen for Turner syndrome. We report three patients of short stature (body height < 3rd percentile) with 45,X/46,XY mosaicism karyotype. They were brought to our outpatient department at the ages of 10, 13, and 18 years, respectively. Two of them had some stigmata of Turner syndrome. Two were treated with growth hormone. In the first patient, body height increased by 20 cm in 3 years 7 months. The second case increased by 6.5 cm in 8 months. We suggest that boys with unexplained short stature should be screened with chromosomal analysis, and growth hormone treatment should be offered to boys of short stature and 45,X/46,XY mosaicism before the epiphyseal plates close.
对于所有身材矮小的女孩——而非男孩，通常会进行染色体分析以筛查特纳综合征。我们报告了3例身材矮小（身高低于第3百分位数）且核型为45,X/46,XY嵌合体的患者。他们分别在10岁、13岁和18岁时被带到我们的门诊部。其中2例有一些特纳综合征的体征。2例接受了生长激素治疗。在第1例患者中，身高在3年7个月内增加了20厘米。第2例在8个月内增加了6.5厘米。我们建议，对于原因不明的身材矮小男孩，应进行染色体分析筛查，并且对于身材矮小且核型为45,X/46,XY嵌合体的男孩，应在骨骺板闭合前给予生长激素治疗。
