Massa G, Verlinde F, De Schepper J, Thomas M, Bourguignon J P, Craen M, de Zegher F, François I, Du Caju M, Maes M, Heinrichs C
University of Bruxelles, Av. J.J. Crocq 15, 1020 Bruxelles, Belgium.
Arch Dis Child. 2005 Mar;90(3):267-8. doi: 10.1136/adc.2004.049817.
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 45,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.
对1991年至2002年间在比利时接受生长激素治疗的242名特纳综合征（TS）女孩的诊断年龄进行了评估。诊断时的中位（范围）年龄为6.6（0 - 18.3）岁。核型为45,X的患者比其他核型的患者诊断更早。与12年前对100名患者进行的一项调查相比，更多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%的女孩在12岁以后才被诊断；这些女孩的身高缺陷最大。由于早期诊断有几个潜在优势，我们建议，对于所有身高低于年龄均值-2标准差或低于父母特定身高下限且原因不明的身材矮小女孩，都应考虑进行细胞遗传学分析。
