Suppr超能文献

特纳综合征成年终身高的研究:种族和遗传影响

Study of final height in Turner's syndrome: ethnic and genetic influences.

作者信息

Rochiccioli P, David M, Malpuech G, Colle M, Limal J M, Battin J, Mariani R, Sultan C, Nivelon J L, Simonin G

机构信息

Service de Pédiatrie, CHU Purpan, Toulouse, France.

出版信息

Acta Paediatr. 1994 Mar;83(3):305-8. doi: 10.1111/j.1651-2227.1994.tb18099.x.

Abstract

In understanding Turner's syndrome, spontaneous adult height is a prerequisite for an accurate assessment of the therapeutic efficiency of growth hormone treatment. The heights described in the literature reveal significant differences (136-147 cm). Our collaborative study pooled results from 16 pediatric endocrinology centers and obtained a large number of spontaneous adult heights (n = 216). The selective criteria were: chronological age (CA) > 18 years, bone age (BA) > 16 years, typical karyotype, no treatment with growth hormone or anabolic steroids. Mean CA was 23.3 +/- 5.6 years. Chromosomal anomalies were: monosomy X 56%; mosaicism 37.2%; structural aberration 10.6%. Mean final height in the whole group was 141.5 (129-160) cm. There was no significant difference in height between the three groups: monosomy X (n = 121: 141.1 +/- 6.4 cm); mosaicism (n = 72: 141.5 +/- 7.5 cm); X anomaly (n = 23: 141.4 +/- 5.0 cm). Mean parental height was 170.4 +/- 7.1 cm (father) and 160.1 +/- 6.2 cm (mother). Parental height and patients' heights correlated significantly, but more so with fathers' heights (r = 0.50) than with mothers' (r = 0.42). The correlation was still apparent with the target height (r = 0.55). The results of different series in the literature show the existence of significant variations as mean final heights are between 136 and 147 cm. These differences can be explained by the variations in normal female heights in each country. We have found in these different countries a very strong correlation (r = 0.91) between normal height and final height in Turner's syndrome.(ABSTRACT TRUNCATED AT 250 WORDS)

摘要

在理解特纳综合征时,自然成年身高是准确评估生长激素治疗疗效的前提条件。文献中描述的身高显示出显著差异(136 - 147厘米)。我们的合作研究汇总了16个儿科内分泌中心的结果,获得了大量自然成年身高数据(n = 216)。选择标准为:实际年龄(CA)> 18岁,骨龄(BA)> 16岁,典型核型,未接受生长激素或合成代谢类固醇治疗。平均实际年龄为23.3 ± 5.6岁。染色体异常情况为:X单体型56%;嵌合体37.2%;结构畸变10.6%。整个组的平均最终身高为141.5(129 - 160)厘米。三组之间身高无显著差异:X单体型(n = 121:141.1 ± 6.4厘米);嵌合体(n = 72:141.5 ± 7.5厘米);X异常(n = 23:141.4 ± 5.0厘米)。父母平均身高为父亲170.4 ± 7.1厘米,母亲160.1 ± 6.2厘米。父母身高与患者身高显著相关,但与父亲身高的相关性(r = 0.50)高于与母亲身高的相关性(r = 0.42)。与靶身高的相关性依然明显(r = 0.55)。文献中不同系列的结果表明存在显著差异,因为平均最终身高在136至147厘米之间。这些差异可由每个国家正常女性身高的变化来解释。我们发现在这些不同国家,特纳综合征患者的正常身高与最终身高之间存在非常强的相关性(r = 0.91)。(摘要截选至250字)

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验