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[生长激素水平高但生长激素释放激素(hGH)后未产生生长调节素的侏儒症(拉伦综合征)。8例临床生化研究]

[Nanism with high values of GH and no generation of somatomedin after hGH (Laron's syndrome). Clinico-biochemical study of 8 cases].

作者信息

Ferrández A, Mengual J, Bastaros J C, Gonzalvo N, Laron Z, Silbergeld A

出版信息

An Esp Pediatr. 1985 Feb;22(2):113-22.

PMID:3985503
Abstract

Eight familial cases with Laron type dwarfism (LTD) are presented. An autosomic recessive transmission seems to be possible with clear predominance in females (6/2). This syndrome first described in Jewish people is probably frequent in our country, with clear historic Jewish antecedents in some of our cases. Some features like prenatal growth deficiency, disproportion between face and calvarium and high levels of inmunoreactive GH distinguish clearly LTD from isolated GH-deficiency. The incapability of hGH to increase low somatomedin activity confirms diagnosis. Moreover low or null nitrogen retention after hGH excludes an inactive GH as a cause of dwarfism.

摘要

本文报告了8例拉伦型侏儒症(LTD)的家族病例。似乎可能存在常染色体隐性遗传,女性明显占优势(6/2)。这种综合征最初在犹太人中被描述,在我国可能很常见,我们的一些病例有明确的犹太历史背景。一些特征,如产前生长发育不足、面部与颅骨比例失调以及高免疫反应性生长激素水平,使LTD与单纯生长激素缺乏症明显区分开来。人生长激素不能增加低生长调节素活性证实了诊断。此外,人生长激素后低氮潴留或无氮潴留排除了无活性生长激素作为侏儒症的病因。

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