特纳综合征早期诊断女孩的自然青春期。
Spontaneous puberty in girls with early diagnosis of Turner syndrome.
作者信息
Carpini Stela, Carvalho Annelise Barreto, Guerra-Júnior Gil, Baptista Maria Tereza Matias, Lemos-Marini Sofia Helena Valente, Maciel-Guerra Andréa Trevas
机构信息
Universidade Estadual de Campinas, Campinas, SP, Brazil.
出版信息
Arq Bras Endocrinol Metabol. 2012 Dec;56(9):653-7. doi: 10.1590/s0004-27302012000900009.
OBJECTIVE
To verify if the frequency of spontaneous pubertal development among girls with Turner syndrome (TS) diagnosed in infancy and childhood is greater than that of patients diagnosed later.
SUBJECTS AND METHODS
Thirty three girls aged < 10 years at the time of diagnosis were evaluated regarding pubertal development. The frequency of spontaneous puberty was compared with that of girls aged > 13 years diagnosed at the same service.
RESULTS
Sixteen of 32 informative patients had signs of spontaneous puberty, a frequency greater than that of patients diagnosed later. In six patients, there was no progression of puberty; menarche occurred in six, and one became pregnant, but the fetus was a stillborn. Spontaneous puberty was absent in all cases with 45,X karyotype.
CONCLUSIONS
The greater prevalence of spontaneous puberty in girls whose diagnosis was not based on pubertal delay suggests that, among those diagnosed later, there is a bias towards patients with hypogonadism.
目的
验证婴儿期和儿童期诊断为特纳综合征（TS）的女孩自发性青春期发育的频率是否高于较晚诊断的患者。
对象与方法
对诊断时年龄<10岁的33名女孩的青春期发育情况进行评估。将自发性青春期的频率与在同一机构诊断的年龄>13岁的女孩进行比较。
结果
32例信息完整的患者中有16例有自发性青春期的迹象，其频率高于较晚诊断的患者。6例患者青春期无进展；6例月经初潮，1例怀孕，但胎儿为死产。所有45,X核型的病例均无自发性青春期。
结论
诊断不是基于青春期延迟的女孩中自发性青春期的患病率较高，这表明在较晚诊断的患者中，存在性腺功能减退患者的偏差。
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