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Chapter 8 - Genetic Aspects of Male Infertility

from Section 2 - The Biology of Male Reproduction and Infertility

Published online by Cambridge University Press:  06 December 2023

By
Albert Salas-Huetos  and
Kenneth I. Aston
Edited by
Douglas T. Carrell ,
Alexander W. Pastuszak  and
James M. Hotaling
Douglas T. Carrell
Affiliation:
Utah Center for Reproductive Medicine
Alexander W. Pastuszak
Affiliation:
University of Utah
James M. Hotaling
Affiliation:
Utah Center for Reproductive Medicine
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Summary

Approximately one out of every 15 men will exhibit subfertility or infertility, and some data suggest the incidence of male infertility is increasing. While a number of factors can cause male infertility, there is strong and growing evidence that genetic factors contribute to a significant proportion of cases. Several significant genetic factors have long been recognized as clinically relevant causes of male infertility including Klinefelter syndrome, microdeletions of the Y chromosome, and cystic fibrosis transmembrane conductance regulator mutations. Since the discovery of these factors in the 1950s, 1970s, and 1980s respectively, there has been a relative dearth in the discovery of additional clinically relevant genetic factors underlying male infertility until recently. However, with the application of emerging genome-wide genetic approaches, along with the collaborative efforts from a growing number of groups, male infertility genetics has experienced a renaissance of sorts in the past decade with significant new discoveries being reported frequently over recent years. This chapter will briefly review the history of male infertility genetics as well as some of the more recent discoveries and efforts beyond gene screening approaches that have and will continue to advance the field.

Keywords

men’s healthgenetics of male infertilitygenomic medicineAZFCFTRgenetic analysisspermatogenesisoligozoospermiasperm motilitysperm morphology
Type
Chapter
Information
Men's Reproductive and Sexual Health Throughout the Lifespan
An Integrated Approach to Fertility, Sexual Function, and Vitality
 , pp. 67 - 75
Publisher: Cambridge University Press
Print publication year: 2023

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