清晨好,您是今天最早来到科研通的研友!由于当前在线用户较少,发布求助请尽量完整地填写文献信息,科研通机器人24小时在线,伴您科研之路漫漫前行!

Klinefelter Syndrome

医学 克氏综合征 女性乳房发育 勃起功能障碍 无精子症 睾酮(贴片) 儿科 代谢综合征 男性不育 不育 非整倍体 妇科 内科学 内分泌学 糖尿病 怀孕 生物化学 化学 生物 基因 染色体 遗传学
作者
Eberhard Nieschlag
出处
期刊:Deutsches Arzteblatt International [Deutscher Ärzte-Verlag]
被引量:56
标识
DOI:10.3238/arztebl.2013.0347
摘要

Background: Klinefelter syndrome (KS) with the karyotype 47,XXY is one of the commonest types of congenital chromosomal disorder in males, with an incidence of 0.1% to 0.2% of newborn male infants.It causes hypogonadism and infertility.Until now, however, only about one-quarter of all persons with KS received the diagnosis during their lifetimes.Methods: Selective review of the literature.Results: KS is caused by aneuploidy of the sex chromosomes.Small, firm testes, the manifestations of androgen deficiency (sparse development of male-pattern body hair, greater than average height, lack of libido, erectile dysfunction) and, in more than 90% of affected men, azoospermia are its main features in adults.Affected boys may have verbalization difficulties and problems with learning and socialization.KS is often accompanied by other disturbances such as gynecomastia, varicose veins, thrombosis, osteoporosis, the metabolic syndrome, type 2 diabetes, and epilepsy.The most important therapeutic measure is testosterone supplementation, which should be initiated if the testosterone concentration drops below 12 nmol/L and should be given as directed in the guidelines for the treatment of hypogonadism.This recommendation is made even though there have not been any randomized controlled trials documenting the efficacy of testosterone therapy in adolescents or young adults.In some cases, viable sperm can be obtained from individual testicular tubules by biopsy, so that these patients are able to become fathers. Conclusion:The diagnosis of KS would be less frequently missed if doctors were more aware of, and attentive to, its key manifestations, particularly the small, firm testes, erectile dysfunction, and the comorbidities mentioned above.If the diagnosis were made more often, patients would more often be able to receive early treatment, which would improve their quality of life.►Cite this as:

科研通智能强力驱动
Strongly Powered by AbleSci AI
更新
PDF的下载单位、IP信息已删除 (2025-6-4)

科研通是完全免费的文献互助平台,具备全网最快的应助速度,最高的求助完成率。 对每一个文献求助,科研通都将尽心尽力,给求助人一个满意的交代。
实时播报
4秒前
小焦儿发布了新的文献求助10
8秒前
16秒前
吃的饭广泛应助小焦儿采纳,获得10
17秒前
谭平完成签到 ,获得积分10
29秒前
科研的豪哥完成签到 ,获得积分10
31秒前
小焦儿完成签到,获得积分10
40秒前
完美梨愁完成签到 ,获得积分10
47秒前
wanci应助无限的以亦采纳,获得10
55秒前
糟糕的翅膀完成签到,获得积分10
56秒前
creep2020完成签到,获得积分10
58秒前
谭凯文完成签到 ,获得积分10
1分钟前
lorentzh完成签到,获得积分10
1分钟前
1分钟前
YX完成签到 ,获得积分10
1分钟前
1分钟前
Sandy应助Am采纳,获得20
1分钟前
桐桐应助嘿嘿嘿侦探社采纳,获得10
1分钟前
ycool完成签到 ,获得积分10
1分钟前
小强完成签到 ,获得积分10
1分钟前
大树完成签到 ,获得积分10
2分钟前
2分钟前
2分钟前
2分钟前
2分钟前
2分钟前
naiyantang完成签到 ,获得积分10
2分钟前
科研通AI2S应助科研通管家采纳,获得10
3分钟前
周常通完成签到,获得积分10
3分钟前
3分钟前
xiaosui完成签到 ,获得积分10
3分钟前
lingling完成签到 ,获得积分10
3分钟前
浪麻麻完成签到 ,获得积分10
3分钟前
提提在干嘛完成签到,获得积分10
4分钟前
4分钟前
4分钟前
赧赧完成签到 ,获得积分10
4分钟前
木南完成签到 ,获得积分10
4分钟前
wang完成签到,获得积分10
5分钟前
望向天空的鱼完成签到 ,获得积分10
5分钟前
高分求助中
A new approach to the extrapolation of accelerated life test data 1000
Cognitive Neuroscience: The Biology of the Mind 1000
Technical Brochure TB 814: LPIT applications in HV gas insulated switchgear 1000
Immigrant Incorporation in East Asian Democracies 600
Nucleophilic substitution in azasydnone-modified dinitroanisoles 500
不知道标题是什么 500
A Preliminary Study on Correlation Between Independent Components of Facial Thermal Images and Subjective Assessment of Chronic Stress 500
热门求助领域 (近24小时)
化学 材料科学 医学 生物 工程类 有机化学 生物化学 物理 内科学 纳米技术 计算机科学 化学工程 复合材料 遗传学 基因 物理化学 催化作用 冶金 细胞生物学 免疫学
热门帖子
关注 科研通微信公众号,转发送积分 3968521
求助须知:如何正确求助?哪些是违规求助? 3513341
关于积分的说明 11167298
捐赠科研通 3248700
什么是DOI,文献DOI怎么找? 1794417
邀请新用户注册赠送积分活动 875030
科研通“疑难数据库(出版商)”最低求助积分说明 804664