Jove
Visualize
联系我们
JoVE
x logofacebook logolinkedin logoyoutube logo
关于 JoVE
概览领导团队博客JoVE 帮助中心
作者
出版流程编辑委员会范围与政策同行评审常见问题投稿
图书馆员
用户评价订阅访问资源图书馆顾问委员会常见问题
研究
JoVE JournalMethods CollectionsJoVE Encyclopedia of Experiments存档
教育
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab Manual教师资源中心教师网站
使用条款与条件
隐私政策
政策

相关概念视频

Disorders of the Male Reproductive System01:20

Disorders of the Male Reproductive System

Men's health issues are increasingly recognized as significant, with several conditions posing common threats. Among these, testicular cancer is especially prevalent in younger men, particularly those aged 20 to 35 years. The disease often manifests as a painless mass in the testicles, sometimes accompanied by a sensation of heaviness or a dull ache.
Prostate disorders are another major concern. These conditions can impair urinary flow due to the prostate's location around the urethra. Symptoms...
The Y Chromosome Determines Maleness02:19

The Y Chromosome Determines Maleness

The Y chromosome is a sex chromosome found in several vertebrates and mammals, including humans. In addition to 22 pairs of autosomes, the human males have one X chromosome and one Y chromosome. In these organisms, the presence or absence of the Y chromosome determines the development of male traits.
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size. Today,...
Mutations01:39

Mutations

Overview
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Infertility in Males01:23

Infertility in Males

Male infertility affects millions of couples worldwide, arising from various factors that impact different stages of the reproductive process. An endocrine imbalance resulting from conditions like hypogonadism, Klinefelter syndrome, or pituitary disorders can disrupt hormone levels and reduce sperm production. Testicular defects, such as tumors, cryptorchidism, atrophic testes, abnormal sperm morphology, and low sperm count or motility, may arise due to genetic factors, structural...

您也可能阅读

相关文章

通过共同作者、期刊和引用图与本文相关的文章。

排序
Same author

Beyond semen analysis: in men with normal semen parameters telomere attrition and oxidative imbalance distinguish those fertile from those with infertility.

Journal of translational medicine·2026
Same author

Pathophysiology-Based Classification of Male Infertility: Evidence from an 800-patient Prospective Cohort.

The Journal of clinical endocrinology and metabolism·2026
Same author

Semen Quality in Transgender Individuals Seeking Fertility Preservation.

Andrology·2026
Same author

Differential effects of legacy and new-generation perfluoro-alkyl substances on in vitro differentiation and immunoglobulins production by B cells.

Environment international·2026
Same author

Neoplastic Risk in Patients With Klinefelter Syndrome.

Andrology·2026
Same author

Re: World Health Organization Guideline for the Prevention, Diagnosis, and Treatment of Infertility (2025)-Concern about the diagnosis and treatment of male factor infertility: the position of the Italian Society of Andrology and Sexual Medicine, the Italian Society of Endocrinology, and the Italian Society of Fertility and Sterility and Reproductive Medicine.

Fertility and sterility·2026

相关实验视频

Updated: Jun 27, 2026

Combined Supine and Standing Imaging for Varicocele: An Improved Diagnostic Approach
04:15

Combined Supine and Standing Imaging for Varicocele: An Improved Diagnostic Approach

Published on: November 22, 2024

基因变化与密码化相关的基因变化.

Alberto Ferlin1, Daniela Zuccarello, Biagio Zuccarello

  • 1Section of Clinical Pathology and Centre for Male Gamete Cryopreservation, Department of Histology, Microbiology and Medical Biotechnologies, University of Padova, Via Gabelli 63, 35121 Padova, Italy.

JAMA
|November 20, 2008
PubMed
概括

遗传变化与男性婴儿的持续性和双边性密码症有关. 这项研究发现,在受影响的男孩中,基因变化的频率更高,包括Klinefelter综合征.

科学领域:

  • 儿科内分泌学 儿科内分泌学
  • 医学遗传学 医学遗传学
  • 发育生物学 发展生物学

背景情况:

  • 密码症是男性常见的先天性缺陷,增加不孕不育和丸癌症的风险.
  • 涉及胰岛素样因子3 (INSL3) 和的荷尔蒙通路对于丸下降至关重要.
  • 这些荷尔蒙通路的干扰可能会导致密码症的发展.

研究的目的:

  • 为了调查诊断出密码症的男性婴儿遗传变化的频率.
  • 为了识别与不同形式的密码症相关的特定遗传异常.

主要方法:

  • 从2003年到2005年,在意大利两个儿科外科部门进行了一项病例控制研究.
  • 分析了600名患有密码体的男婴和300名非密码体的对照.
  • 遗传分析包括INSL3,INSL3受体和雄激素受体基因中的型异常和突变.

主要成果:

  • 密码症的遗传变化的总体频率为2.8%,明显高于对照组 (0.3%).
  • 持久性和双边性密码症显示,基因变异的患病率更高 (分别为5.3%和8.3%).
  • 克莱因费尔特综合征 (8例) 和INSL3受体基因突变 (5例) 是最常见的发现.

更多相关视频

Exploring X Chromosomal Aberrations in Ovarian Cells by Using Fluorescence In Situ Hybridization
11:08

Exploring X Chromosomal Aberrations in Ovarian Cells by Using Fluorescence In Situ Hybridization

Published on: April 7, 2023

CRISPR Gene Editing Tool for MicroRNA Cluster Network Analysis
10:40

CRISPR Gene Editing Tool for MicroRNA Cluster Network Analysis

Published on: April 25, 2022

相关实验视频

Last Updated: Jun 27, 2026

Combined Supine and Standing Imaging for Varicocele: An Improved Diagnostic Approach
04:15

Combined Supine and Standing Imaging for Varicocele: An Improved Diagnostic Approach

Published on: November 22, 2024

Exploring X Chromosomal Aberrations in Ovarian Cells by Using Fluorescence In Situ Hybridization
11:08

Exploring X Chromosomal Aberrations in Ovarian Cells by Using Fluorescence In Situ Hybridization

Published on: April 7, 2023

CRISPR Gene Editing Tool for MicroRNA Cluster Network Analysis
10:40

CRISPR Gene Editing Tool for MicroRNA Cluster Network Analysis

Published on: April 25, 2022

结论:

  • 双边/持久性密码症和特定的遗传改变之间存在统计学上显著的关联.
  • 克莱因费尔特综合征和INSL3受体基因突变是密码体症病例的一个子集中的关键遗传发现.
  • 遗传因素在密码症的病因学中发挥着作用,特别是在更严重的表现中.