Novel Physiology and Molecular Pathology of Reproduction, Novel Treatments of Infertility

Dear Colleagues,

Despite the major developments that have taken place in the field in the last few decades, infertility still poses a major diagnostic and therapeutic challenge, and overall, less than 50% of couples attending infertility treatments can be helped. About 1 out of 7 couples have difficulties to conceive, and the figure is bound to increase due to the demographic change with regard to the increase in maternal age when acquiring children. Very roughly, in about 1/3 of couples, the cause of infertility can be traced back to the female side, 1/3 to the male side, and in 1/3 of cases, the cause can be found in both. Primary ovarian insufficiency (POI) affects ~1% of women before they reach 40 years of age. The most frustrating cases are idiopathic (15–30% of couples), where no cause and no rational treatment can be offered. For these reasons, new information about the pathogenesis, diagnosis, and treatment of male and female infertility is urgently needed. This Special Issue aims to review recent research on male and female infertility. The recent leap in genetic knowledge obtained through next-generation sequencing (NGS) together with animal models has further elucidated their molecular pathogenesis, identifying novel genes/pathways. Mutations of >60 genes or more than 100 genes in isolated female and male infertility, respectively, emphasize the high genetic heterogeneity. NGS will provide a genetic diagnosis leading to genetic/therapeutic counseling. Defects in meiosis or DNA repair genes may predispose to tumors. Specific gene mutations may predict the risk of a rapid loss of a persistent ovarian reserve in women, an important determinant in fertility preservation. Novel physiology and newly identified regulators of ovarian folliculogenesis and ovulation will be developed. Novel mechanisms that regulate the activation of primordial follicles have been unraveled, and they lead to innovative treatments. Indeed, a recent treatment of POI by in vitro activation of dormant follicles (IVA) proved successful. Other innovative treatments are in development (e.g., stem cells). On the male side, the latest data on hormonal regulation of spermatogenesis, genetic and epigenetic approaches to addressing idiopathic failure of spermatogenesis, attempts to achieve in vitro spermatogenesis, the effect of general health on male fertility, and new treatment modalities and their outcome will be reviewed.

Prof. Dr. Micheline Misrahi
Prof. Dr. Ilpo Huhtaniemi
Guest Editors

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