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与生长激素和促性腺激素缺乏相关的XY性腺发育不全

XY gonadal dysgenesis associated with hGH and gonadotrophin deficiencies.

作者信息

Kauli R, Pertzelan A, Prager-Lewin R, Maimon Z, Ovadia J, Laron Z

出版信息

Clin Genet. 1979 May;15(5):369-76. doi: 10.1111/j.1399-0004.1979.tb01768.x.

DOI:10.1111/j.1399-0004.1979.tb01768.x
PMID:571777
Abstract

A girl of remarkably short stature, referred for investigation with the diagnosis of gonadal dysgenesis and the finding of a male karyotype, proved to be deficient in growth hormone and gonadotrophin secretion, and was treated with growth and sex hormones. It was concluded that this case demonstrates an apparently casual coincidence of pituitary insufficiency with XY gonadal dysgenesis, evidently the first to be reported.

摘要

一名身材异常矮小的女孩,因诊断为性腺发育不全并发现男性核型而前来接受检查,结果证明其生长激素和促性腺激素分泌不足,并接受了生长激素和性激素治疗。得出的结论是,该病例显示垂体功能不全与XY性腺发育不全明显偶然同时出现,显然这是首例有报道的病例。

相似文献

1
XY gonadal dysgenesis associated with hGH and gonadotrophin deficiencies.与生长激素和促性腺激素缺乏相关的XY性腺发育不全
Clin Genet. 1979 May;15(5):369-76. doi: 10.1111/j.1399-0004.1979.tb01768.x.
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Gonadotropin secretion in patients with gonadal dysgenesis.性腺发育不全患者的促性腺激素分泌
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[Gonodotropic function of the hypophysis in different forms of gonadal dysgenesis].[垂体前叶促性腺功能在不同形式性腺发育不全中的表现]
Akush Ginekol (Mosk). 1978 Aug(8):20-4.
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Influence of gonadal function on final height in hGH-treated GH-deficient children.性腺功能对生长激素治疗的生长激素缺乏儿童最终身高的影响。
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[Characteristics of the gonadotropic function of the hypothalamo-hypophyseal system in girls with certain forms of gonadal dysgenesis].[某些形式性腺发育不全女孩下丘脑 - 垂体系统促性腺功能的特征]
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Genetic forms of pituitary dwarfism.
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Clinical Features of 32 Patients with XO/XY Gonadal Dysgenesis.32例XO/XY性腺发育不全患者的临床特征
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[Evaluation of the potential gonadotropin reserve with specific stimulation with "releasing hormone"].["用释放激素特异性刺激评估潜在促性腺激素储备"]
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引用本文的文献

1
XY gonadal dysgenesis: genetic heterogeneity based upon clinical observations, H-Y antigen status and segregation analysis.XY性腺发育不全:基于临床观察、H-Y抗原状态和分离分析的遗传异质性
Hum Genet. 1981;58(1):91-7. doi: 10.1007/BF00284155.
2
Optimum use of growth hormone in children.
Drugs. 1991 Jul;42(1):1-8. doi: 10.2165/00003495-199142010-00001.