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不同核型特纳综合征的自然生长与青春期发育

Spontaneous growth and pubertal development in Turner's syndrome with different karyotypes.

作者信息

Mazzanti L, Nizzoli G, Tassinari D, Bergamaschi R, Magnani C, Chiumello G, Cacciari E

机构信息

Department of Pediatrics, University of Bologna, Italy.

出版信息

Acta Paediatr. 1994 Mar;83(3):299-304. doi: 10.1111/j.1651-2227.1994.tb18098.x.

Abstract

We studied spontaneous growth and pubertal development in 205 girls with Turner's syndrome, aged 1 month to 28.16 years, according to different karyotypes: 45,X (52%), X-mosaicism (12%), X-structural abnormalities (36%). Data on height, weight, height velocity, bone age and pubertal development were collected yearly in a mixed longitudinal and cross-sectional mode. Pelvic ultrasonography was performed in 133 patients, 46 of whom had contact breast thermography. Standards for height and height velocity (1-20 years) showed no differences when compared with other studies. Some differences were found when these data were subdivided by karyotype. In fact, X-mosaicism subjects had a pubertal growth spurt between 8 and 12 years of age. The spurt observed in this group cannot be justified by the more frequent presence of residual ovarian activity alone. It also appears in patients without ovaries and confirms the influence of a genetic factor on the X-chromosome. In spite of this spurt, the greatest final height was reached by 45,X subjects. X-mosaicism girls had more frequent spontaneous breast development linked to a higher percentage of visible ovaries. In this group the age of the first pubertal signs was similar to that of normal subjects and occurred much earlier than in the other groups.

摘要

我们根据不同核型,对205名年龄在1个月至28.16岁之间的特纳综合征女孩的自然生长和青春期发育进行了研究,这些核型包括:45,X(52%)、X染色体嵌合体(12%)、X结构异常(36%)。以纵向和横断面混合的模式,每年收集身高、体重、身高增长速度、骨龄和青春期发育的数据。对133名患者进行了盆腔超声检查,其中46名进行了接触式乳腺热成像检查。身高和身高增长速度(1至20岁)的标准与其他研究相比无差异。当按核型细分这些数据时,发现了一些差异。事实上,X染色体嵌合体受试者在8至12岁时有青春期生长突增。该组中观察到的生长突增不能仅以残留卵巢活动更频繁来解释。它也出现在无卵巢的患者中,并证实了X染色体上遗传因素的影响。尽管有这种生长突增,但45,X受试者最终身高最高。X染色体嵌合体女孩自发乳房发育更频繁,与可见卵巢的比例更高有关。在该组中,首次出现青春期体征的年龄与正常受试者相似,且比其他组早得多。

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