The biology of infertility: research advances and clinical challenges.
The biology of infertility: research advances and clinical challenges.
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生殖是所有哺乳动物物种生存所必需的，成千上万的基本“性”基因在进化过程中得到了保护。基础研究有助于确定这些基因以及负责男性和女性生殖系统发育、功能和调节的机制。然而，许多不孕夫妇继续被贴上特发性不孕症的诊断标签，或给出描述性诊断，但不能提供其缺陷的原因。对于其他具有已知病因的个体，缺乏有效的治疗方法，尽管他们的不孕症通常被辅助生殖技术（ART）绕过，一些伴随着安全或伦理问题。当然，生殖领域的进展是在21世纪实现的，对生育力调节的理解取得了进展，产生了400多个具有生殖表型的突变小鼠模型，并有望产生再生性腺干细胞。事实上，在过去六年中，在鉴定导致人类不育或与之相关的基因突变或多态性方面出现了实质性的爆炸。然而，将这些发现转化为临床仍然缓慢，诊断和治疗不孕夫妇的新方法也是如此。此外，新的避孕方法仍然难以捉摸。尽管如此，对生殖的分子控制的理解的基础和临床进展是令人印象深刻的，并将最终改善患者的护理。
Reproduction is required for the survival of all mammalian species, and thousands of essential ‘sex’ genes are conserved through evolution. Basic research helps to define these genes and the mechanisms responsible for the development, function and regulation of the male and female reproductive systems. However, many infertile couples continue to be labeled with the diagnosis of idiopathic infertility or given descriptive diagnoses that do not provide a cause for their defect. For other individuals with a known etiology, effective cures are lacking, although their infertility is often bypassed with assisted reproductive technologies (ART), some accompanied by safety or ethical concerns. Certainly, progress in the field of reproduction has been realized in the twenty-first century with advances in the understanding of the regulation of fertility, with the production of over 400 mutant mouse models with a reproductive phenotype and with the promise of regenerative gonadal stem cells. Indeed, the past six years have witnessed a virtual explosion in the identification of gene mutations or polymorphisms that cause or are linked to human infertility. Translation of these findings to the clinic remains slow, however, as do new methods to diagnose and treat infertile couples. Additionally, new approaches to contraception remain elusive. Nevertheless, the basic and clinical advances in the understanding of the molecular controls of reproduction are impressive and will ultimately improve patient care.
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影响因子：
6.1
作者：
Andersen, A. Nyboe;Goossens, V.;Nygren, K. G.
通讯作者：
Nygren, K. G.
影响因子：
6.1
作者：
Bartels, I;Schlösser, M;Pauer, HU
通讯作者：
Pauer, HU
影响因子：
2.7
作者：
Bristol-Gould, Sarah K.;Kreeger, Pamela K.;Woodruff, Teresa K.
通讯作者：
Woodruff, Teresa K.
DOI：
10.1073/pnas.2536658100
发表时间：
2003-12-09
影响因子：
11.1
作者：
Carlson, AE;Westenbroek, RE;Babcock, DF
通讯作者：
Babcock, DF
影响因子：
--
作者：
Carrell, Douglas T.
通讯作者：
Carrell, Douglas T.