Trends in age at diagnosis of Turner syndrome
Trends in age at diagnosis of Turner syndrome
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DOI：
10.1136/adc.2004.049817
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发表时间：
2005-03-01
影响因子：
5.2
通讯作者：
Heinrichs, C
中科院分区：
文献类型：
--
作者：
Massa, G;Verlinde, F;Heinrichs, C
对1991年至2002年间在比利时接受生长激素治疗的242例特纳综合征（TS）女童的诊断年龄进行了评估。诊断时的中位（范围）年龄为6.6岁（0-18.3岁）。345，X核型的患者比其他核型的患者诊断早。与12年前对100名患者进行的调查相比，更多的患者在婴儿期和儿童期被诊断出来，而在青春期被诊断出来的患者较少。然而，22%的女孩是在12岁以后才被诊断出来的；这些女孩表现出最大的身高缺陷。由于早期诊断有几个潜在的优势，我们建议在身高低于年龄平均值-2 SD或低于父母特定身高下限的所有不明原因身材矮小的女孩中都应考虑细胞遗传学分析。
The age at diagnosis of 242 girls with Turner syndrome (TS) treated in Belgium with growth hormone between 1991 and 2002 was evaluated. The median (range) age at diagnosis was 6.6 (0-18.3) years Patients with 345,X karyotype were diagnosed earlier than patients with other karyotypes. Compared to a previous survey, performed on 100 patients 12 years earlier, more patients were diagnosed during infancy and childhood, and less during adolescence. However, in 22% of the girls the diagnosis was made after the age of 12 years; these girls showed the largest height deficit. As early diagnosis has several potential advantages we recommend that a cytogenetic analysis should be considered in all girls with unexplained short stature with height below -2 SD of the mean for age or below the parent specific lower limit of height.