PDF(Pubmed)
Abstract：
The overall incidence of sex chromosome aneuploidies is approximately 1 per 500 live-born infants, but far more common at conception. I shall review the fertility aspects of the sex chromosome trisomies, XXY, XYY, and XXX, with special reference to the karyotype 45,X/47,XXX. Each has a \'specific\' (but variable) phenotype but may be modified by mosaicism. Although the alterations in the hypothalamic-pituitary-gonadal axis are important (and discussed), the emphasis here is on potential fertility and if one might predict that at various epochs within an individual\'s life span: fetal, \'mini\'-puberty, childhood, puberty, and adulthood. The reproductive axis is often affected in females with the 47,XXX karyotype with diminished ovarian reserve and accelerated loss of ovarian function. Fewer than 5% of females with Turner syndrome have the 45,X/47,XXX karyotype. They have taller stature and less severe fertility issues compared to females with the 45,X or other forms of Turner syndrome mosaicism. For the 47,XXY karyotype, non-obstructive azoospermia is almost universal with sperm retrieval by micro-testicular sperm extraction possible in slightly fewer than half of the men. Men with the 47,XYY karyotype have normal to large testes and much less testicular dysfunction than those with the 47,XXY karyotype. They do have a slight increase in infertility compared to the reference population but not nearly as severe as those with the 47,XXY karyotype. Assisted reproductive technology, especially micro-testicular sperm extraction, has an important role, especially for those with 47,XXY; however, more recent data show promising techniques for the in vitro maturation of spermatogonial stem cells and 3D organoids in culture. Assisted reproductive technology is more complex for the female, but vitrification of oocytes has shown promising advances.
摘要：
性染色体非整倍体的总体发生率约为每500名活产婴儿1名。但在受孕时更常见。我将回顾性染色体三体的生育力方面，XXY,XYY,XXX,特别参考核型45，X/47，XXX。每个都有一个“特定”(但可变)表型，但可能会被马赛克修饰。尽管下丘脑-垂体-性腺轴的改变很重要（并且已经讨论过），重点是潜在的生育率。生殖轴通常在具有47，XXX核型的女性中受到影响，卵巢储备减少和卵巢功能加速丧失。少于5%的具有特纳综合征的女性具有45,X/47,XXX核型。与45，X或其他形式的特纳综合征镶嵌症的女性相比，她们的身材更高，生育问题不那么严重。对于47，XXY核型非阻塞性无精子症几乎是普遍的，只有不到一半的男性可以通过微睾丸精子提取来获取精子。与47，XXY核型的男性相比，47，XYY核型的男性睾丸正常到大，睾丸功能障碍少得多。与参考人群相比，他们的不孕症确实略有增加，但没有47，XXY核型那么严重。辅助生殖技术,尤其是微型TESE具有重要作用，特别是对于那些47，XXY;然而，最近的数据显示，在培养中精原干细胞和3-D类器官的体外成熟有前途的技术。辅助生殖技术对女性来说更复杂，但是卵母细胞的玻璃化显示出有希望的进展。
