克莱因费尔特综合征:男性不孕症的病因和临床考虑†
Xinyue Chen1, Xueguang Zhang1, Ting Jiang1
1Reproductive Endocrinology and Regulation Laboratory, Department of Obstetric and Gynecologic, West China Second University Hospital, Sichuan University, Chengdu 610041, China.
Biology of reproduction
|May 24, 2024
概括
克莱因费尔特综合征 (KS) 是一种男性染色体疾病 (47,XXY),由于介质性错误和丸功能改变,导致不孕. 辅助生殖技术为KS患者的生物学家长提供了希望.
科学领域:
- 遗传学 遗传学 是一个
- 生殖医学 生殖医学
- 内分泌学 在内分泌学.
背景情况:
- 克莱因菲尔特综合征 (KS) 是最常见的男性染色体疾病,其特征是47,XXY karyotype.
- 癌症的首要临床表现是生殖功能受损,包括阴性过高和不孕症.
- 这种状况是由于游戏生成过程中的染色体分离错误引起的.
研究的目的:
- 综合审查导致Klinefelter综合征不孕症的遗传和生理因素.
- 检查KS患者的新兴辅助生殖技术 (ART).
- 讨论围绕KS患者不孕症治疗的伦理考虑.
主要方法:
- 关于克莱因费尔特综合征,男性不育,遗传学和生殖技术的现有文献的综述.
- 对遗传因素的分析,包括检查点基因中的多态性.
- 检查丸内分泌和细胞功能的生理学障碍.
- 包括表观遗传修饰,如DNA甲基化.
- 讨论当前和未来的辅助生殖方法.
主要成果:
- 在KS中,在精子发生过程中对介质性错误的敏感性增加导致无倍体或多倍体性雌同体.
- 检查点基因中的特定遗传多态性加剧了介质性错误.
- 额外的X染色体会破坏丸内分泌和新陈代谢,损害精子的发育.
- 异常的DNA甲基化模式与KS的生殖病理有关.
- 辅助生殖技术在KS中显示出对生育管理的前景.
结论:
- 了解KS中介质和内分泌干扰对于管理不孕症至关重要.
- 辅助生殖方法,再加上遗传和生理学的见解,有可能使KS个体的生物亲属成为可能.
- 遗传学,生理学,伦理学和生殖医学专家之间的多学科合作至关重要.
相关概念视频
01:23Infertility in Males
260
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...
260
01:20Disorders of the Male Reproductive System
395
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....
Prostate disorders are another major concern. These conditions can impair urinary flow due to the prostate's location around the urethra....
395
01:41Spermatogenesis
102.4K
Spermatogenesis is the process by which haploid sperm cells are produced in the male testes. It starts with stem cells located close to the outer rim of seminiferous tubules. These spermatogonial stem cells divide asymmetrically to give rise to additional stem cells (meaning that these structures “self-renew”), as well as sperm progenitors, called spermatocytes. Importantly, this method of asymmetric mitotic division maintains a population of spermatogonial stem cells in the male...
102.4K
01:28Infertility in Females
292
Female infertility is defined as the inability to conceive after a year of regular, unprotected intercourse and affects about 10–15% of couples worldwide. The primary cause of female infertility is ovulatory disorders, which hinder the release of eggs. These disorders can be classified as hypothalamic amenorrhea, polycystic ovarian syndrome (PCOS), premature ovarian failure, and hyperprolactinemic anovulation disorders.
Endometriosis, a condition characterized by abnormal growth of...
Endometriosis, a condition characterized by abnormal growth of...
292
01:43Sex-linked Disorders
102.0K
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.
102.0K
02:19The Y Chromosome Determines Maleness
6.6K
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....
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....
6.6K