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卡尔曼综合征与耳聋:一种罕见的组合:病例报告及文献综述

Kallmann syndrome and deafness: an uncommon combination: A case report and a literature review.

作者信息

Salama Nader

机构信息

Department of Surgery (Section of Urology), Taibah Faculty of Medicine, Taibah University, Al-Madinah, Saudi Arabia.; Department of Urology, Alexandria Faculty of Medicine, Alexandria, Egypt.

出版信息

Int J Reprod Biomed. 2016 Aug;14(8):541-4.

PMID:27679830
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5015669/
Abstract

BACKGROUND

Kallmann syndrome (Kal S) is an isolated form of hypogonadotrophic hypogonadism in combination with a defect in smell sensation. Depending on the genetic form of the disease, a number of non-reproductive, non-olfactory abnormalities may also be existent. In the present report, we describe a male with Kal S associated with hearing loss, and the successful treatment of his sexual and reproductive defects.

CASE

A 23-year-old Caucasian man presented with a lifelong lack of erection and ejaculation. The patient reported also anosmia combined with loss of hearing ability. A diagnostic work-up identified the presence of Kal S associated with sensorineural hearing loss. Administration of gonadotrophins regained the erection and a viable-sperm containing ejaculation.

CONCLUSION

Lack of erection and ejaculation are important components of delayed puberty which could lead to diagnosis of Kal S. The existence of a hearing impairment in the reported patient makes the recommendation to screen the hearing ability in Kal S of utmost importance.

摘要

背景

卡尔曼综合征(Kal S)是一种孤立性促性腺激素缺乏性性腺功能减退症,伴有嗅觉缺陷。根据疾病的遗传形式,还可能存在一些非生殖、非嗅觉异常。在本报告中,我们描述了一名患有卡尔曼综合征并伴有听力损失的男性,以及其性和生殖缺陷的成功治疗。

病例

一名23岁的白种男性,自幼缺乏勃起和射精功能。患者还自述嗅觉缺失并伴有听力丧失。诊断检查确定其患有卡尔曼综合征并伴有感音神经性听力损失。给予促性腺激素后恢复了勃起功能,并出现了含有活精子射精。

结论

勃起和射精功能缺失是青春期延迟的重要组成部分,可能导致卡尔曼综合征的诊断。报告患者存在听力障碍,这使得在卡尔曼综合征患者中筛查听力能力的建议至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/474c/5015669/a0ff5dab3644/ijrb-14-541-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/474c/5015669/a0ff5dab3644/ijrb-14-541-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/474c/5015669/a0ff5dab3644/ijrb-14-541-g001.jpg

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本文引用的文献

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Discovery of a large deletion of KAL1 in 2 deaf brothers.发现 2 名耳聋兄弟中存在 KAL1 的大片段缺失。
Otol Neurotol. 2013 Dec;34(9):1590-4. doi: 10.1097/MAO.0000000000000228.
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Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness.SOX10 功能丧失性突变导致伴有耳聋的 Kallmann 综合征。
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Clinical genetics of Kallmann syndrome.卡尔曼综合征的临床遗传学。
Ann Endocrinol (Paris). 2010 May;71(3):149-57. doi: 10.1016/j.ando.2010.02.005. Epub 2010 Apr 2.
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Idiopathic gonadotrophin deficiency: genetic questions addressed through phenotypic characterization.特发性促性腺激素缺乏症:通过表型特征解决的遗传学问题。
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