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卡尔曼综合征:临床诊断线索

Kallmann's syndrome: clues to clinical diagnosis.

作者信息

John H, Schmid C

机构信息

Department of Urology, Zürich University Hospital, Switzerland.

出版信息

Int J Impot Res. 2000 Oct;12(5):269-71. doi: 10.1038/sj.ijir.3900568.

DOI:10.1038/sj.ijir.3900568
PMID:11424964
Abstract

Five cases of Kallmann's syndrome are presented, out-patients with microtestes, hypogonadotropic hypogonadism and complete anosmia. The final diagnosis was made only when they were aged between 17 and 26 (mean 21 years), although they had been seen by several physicians before: 3 for cryptorchidism and 3 for absence of spontaneous puberty; 2 had a positive family history, and 4 of the 5 patients or their parents admitted that they were aware of the fact that their sense of smell was completely absent, but they did not mention it spontaneously.

摘要

本文报告了5例卡尔曼综合征患者,这些门诊患者表现为睾丸微小、低促性腺激素性性腺功能减退和完全性嗅觉缺失。尽管他们之前曾看过多位医生,但最终诊断直到他们17至26岁(平均21岁)时才做出:3例因隐睾就诊,3例因青春期未自然启动就诊;2例有阳性家族史,5例患者中有4例或其父母承认他们意识到自己完全没有嗅觉,但他们并未主动提及。

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1
Kallmann's syndrome: clues to clinical diagnosis.卡尔曼综合征:临床诊断线索
Int J Impot Res. 2000 Oct;12(5):269-71. doi: 10.1038/sj.ijir.3900568.
2
Kallmann's syndrome: clues to clinical diagnosis.卡尔曼综合征:临床诊断线索
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Kallmann's syndrome.卡尔曼综合征
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Craniofacial morphology in patients with Kallmann's syndrome with and without cleft lip and palate.伴有或不伴有唇腭裂的卡尔曼综合征患者的颅面形态。
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X-linked ichthyosis with hypogonadism: not always Kallmann's syndrome.伴有性腺功能减退的X连锁鱼鳞病:并非总是卡尔曼综合征。
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Biochemical and MRI findings of Kallmann's syndrome.卡尔曼综合征的生化及磁共振成像表现
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Hypogonadotrophic short statured with anosmia: Kallmann's syndrome.低促性腺激素性身材矮小伴嗅觉缺失:卡尔曼综合征。
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1
Clinical and inheritance profiles of Kallmann syndrome in Jordan.约旦卡尔曼综合征的临床和遗传特征
Reprod Health. 2004 Oct 24;1(1):5. doi: 10.1186/1742-4755-1-5.