Genetic variants of gonadotrophins and their receptors: Impact on the diagnosis and management of the infertile patient

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. (C) 2021 Elsevier Ltd. All rights reserved.

Automated summary

This article reviews the genetic variants of genes encoding gonadotrophin subunits and their receptors and explores their implications in the diagnosis and treatment of infertility. The authors provide an overview of the molecular biology and biochemistry of gonadotrophin and its receptor structure and function and discuss the phenotypic effects of polymorphisms and mutations in these genes. The article also summarizes the diagnostic aspects and presents current and future therapeutic approaches for patients with gonadotrophin and receptor mutations.