Rivero-Müller Adolfo, Huhtaniemi Ilpo
Department of Biochemistry and Molecular Biology, Medical University of Lublin, Lublin, 20-093, Poland.
Institute of Reproductive and Developmental Biology, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, W12 0NN, UK.
Best Pract Res Clin Endocrinol Metab. 2022 Jan;36(1):101596. doi: 10.1016/j.beem.2021.101596. Epub 2021 Nov 10.
This narrative review is concerned with genetic variants of the genes encoding gonadotrophin subunits and their receptors, as well as their implications into the diagnosis and treatment of infertility. We first review briefly the basics of molecular biology and biochemistry of gonadotrophin and gonadotrophin receptor structure and function, then describe the phenotypic effects of polymorphisms and mutations of these genes, followed by diagnostic aspects. We will then summarise the information that inactivating gonadotrophin receptor mutations have provided about the controversial topic of extragonadal gonadotrophin action. Finally, we will close with the current and future therapeutic approaches on patients with gonadotrophin and their receptor mutations.
本叙述性综述关注编码促性腺激素亚基及其受体的基因的遗传变异，以及它们在不孕症诊断和治疗中的意义。我们首先简要回顾促性腺激素的分子生物学和生物化学基础以及促性腺激素受体的结构和功能，然后描述这些基因多态性和突变的表型效应，接着阐述诊断方面。随后，我们将总结失活性促性腺激素受体突变在性腺外促性腺激素作用这一有争议话题上所提供的信息。最后，我们将阐述针对促性腺激素及其受体突变患者的当前和未来治疗方法。
