45,XO/47,XXX/46,XX男性性逆转综合征。一个病例报告。

IF 0.2 4区 医学 Q4 Medicine
生殖医学杂志 Pub Date : 2016-09-01
Xiang-Li Pang, Wen Long, Jie Li, Jing Yang
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引用次数: 0

摘要

背景:性反转综合征是一种由性发育障碍(DSD)引起的遗传异常,其特征是表型不一致,阴茎大小正常,睾丸小,无精子症导致不孕。病例:1例男性患者,诊断为45、XO/47、XXX/46、XX型男性性反转综合征,阴毛正常,阴茎大小正常,促卵泡激素和促黄体生成素水平高,睾丸小,无精子症导致不孕。结论:性反转综合征是一种由DSD引起的遗传性疾病。导致DSD的因素很多,但其确切机制尚未完全发现。性腺性与染色体性之间,以46、XX型男性和46、XY型女性居多,但罕见的45、XO型男性也可发现。大约80%的男性(46,XX)有正常的阴毛和。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
45,XO/47,XXX/46,XX Male Sex Reversal Syndrome. A Case Report.

Background: Sex reversal syndrome is a genetic anomaly caused by the disorder of sex development (DSD) with the characteristics of inconsistent phenotype normal penile size but small testes and infertility re- stulting from azoospermia.

Case: A male patient was diagnosed with the karyo- type of 45,XO/47,XXX/46,XX male sex reversal syn- drome with normal pubic hair and normal penile size, high levels of follicle-stimulating hormone and luteiniz- ing hormone, but small testes and infertility resulting from azoospermia.

Conclusion: Sex reversal syndrome is a genetic con- dition caused by DSD. Many factors can lead to DSD, but the accurate mechanism has not been completely discovered. between gonadal sexuality and chromosome sexuality, including 46,XX male and 46,XY female for the most part, but the rare type 45,XO male also can be found. Approximately 80% of males with 46,XX present' with normal pubic hair and.

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来源期刊
生殖医学杂志
生殖医学杂志 医学-妇产科学
自引率
0.00%
发文量
6427
审稿时长
6-12 weeks
期刊介绍: The Journal of Reproductive Medicine® has been the essential tool of Obstetricians and Gynecologists since 1968. As a highly regarded professional journal and the official periodical of six medical associations, JRM® brings timely and relevant information on the latest procedures and advances in the field of reproductive medicine. Published bimonthly, JRM® contains peer-reviewed articles and case reports submitted by top specialists. Common topics include research, clinical practice, and case reports related to general obstetrics and gynecology, infertility, female cancers, gynecologic surgery, contraception, and medical education.
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