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Chapter 16 - Implementing Genetic Testing of Male Infertility in the Clinic

from Section 3 - Clinical Evaluation and Treatment of Male Infertility

Published online by Cambridge University Press:  06 December 2023

By
Ahmad Majzoub ,
Chak Lam Cho  and
Sandro C. Esteves
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

Male factor infertility contributes to roughly 50% of the causes of infertility among couples. Advancements in the diagnostic field of reproduction allowed for the recognition of various etiologies for male factor infertility. Various pretesticular, testicular, and posttesticular etiologies have been identified and are believed to arise from genetic causes in 15–30% of cases. While a number of laboratory tests are available, the indication of genetic testing relies primarily on the findings in the history, physical examination, and semen analysis. Men with suspicion of nonobstructive azoospermia and those with idiopathic severe oligozoospermia are investigated with karyotype and Y-chromosome microdeletion assays. Analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is reserved for patients with obstructive azoospermia secondary to a unilateral or bilateral complete absence of the vas deference. In addition to the more commonly adopted tests, the genetic evaluation may have a role in patients with congenital hypogonadotropic hypogonadism and androgen insensitivity syndrome. Genetic testing of male infertility is a rapidly evolving field in andrology. Epigenetics, next-generation DNA sequencing, and microarray-based technologies represent some of the promising development in the area and may further expand the clinical utilization of genetic evaluation.

Keywords

male infertilitygenetic testingazoospermiaoligozoospermiaY chromosomekaryotype
Type
Chapter
Information
Men's Reproductive and Sexual Health Throughout the Lifespan
An Integrated Approach to Fertility, Sexual Function, and Vitality
 , pp. 127 - 134
Publisher: Cambridge University Press
Print publication year: 2023

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