The Genetic Landscape of Male Factor Infertility and Implications for Men’s Health and Future Generations

Infertility is a significant global health issue, affecting 8–12% of couples of reproductive age, with male factor infertility contributing to 30–50% of cases. Despite advances in assisted reproductive technologies, particularly intra-cytoplasmic sperm injection, male infertility remains understudie...

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Main Authors: Kristian Black, Sofie Ølgaard, Amelia A. Khoei, Clara Glazer, Dana A. Ohl, Christian Fuglesang S. Jensen
Format: Article
Language:English
Published: MDPI AG 2025-01-01
Series:Uro
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Online Access:https://www.mdpi.com/2673-4397/5/1/2
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author Kristian Black
Sofie Ølgaard
Amelia A. Khoei
Clara Glazer
Dana A. Ohl
Christian Fuglesang S. Jensen
author_facet Kristian Black
Sofie Ølgaard
Amelia A. Khoei
Clara Glazer
Dana A. Ohl
Christian Fuglesang S. Jensen
author_sort Kristian Black
collection DOAJ
description Infertility is a significant global health issue, affecting 8–12% of couples of reproductive age, with male factor infertility contributing to 30–50% of cases. Despite advances in assisted reproductive technologies, particularly intra-cytoplasmic sperm injection, male infertility remains understudied compared to female infertility. This review aims to explore the genetic underpinnings of male factor infertility, including identified genetic mutations, chromosomal abnormalities, and epigenetic factors, and to investigate the broader health implications for affected men. The emerging data suggest that male infertility is not only a reproductive issue but also a potential predictor of chronic diseases, including autoimmune disorders, cancer, and premature death. Additionally, the inheritance of male factor infertility and its potential effects on offspring health remains indeterminate. Studies have shown conflicting results regarding the impact of parental infertility and fertility treatments on the semen quality and reproductive health of offspring. This review summarizes the current understanding of the genetic causes of male infertility, highlights the impact of chromosomal disorders, reviews the spectrum of sperm quality and hormonal profiles, and discourses on the need for further research to clarify the relationships between parental subfertility, male infertility, and offspring health. By investigating these complex interrelationships, future research can help shape more effective diagnostic and treatment strategies for male infertility and its broader implications for men’s health and future generations.
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spelling doaj-art-0867fd2cc5e14516bdb4c386d61d06ba2025-08-20T01:49:04ZengMDPI AGUro2673-43972025-01-0151210.3390/uro5010002The Genetic Landscape of Male Factor Infertility and Implications for Men’s Health and Future GenerationsKristian Black0Sofie Ølgaard1Amelia A. Khoei2Clara Glazer3Dana A. Ohl4Christian Fuglesang S. Jensen5Department of Urology, University of Michigan, Ann Arbor, MI 48109, USADepartment of Urology, Copenhagen University Hospital—Herlev & Gentofte, DK-2730 Herlev, DenmarkDepartment of Urology, University of Michigan, Ann Arbor, MI 48109, USADepartment of Urology, Copenhagen University Hospital—Herlev & Gentofte, DK-2730 Herlev, DenmarkDepartment of Urology, University of Michigan, Ann Arbor, MI 48109, USADepartment of Urology, Copenhagen University Hospital—Herlev & Gentofte, DK-2730 Herlev, DenmarkInfertility is a significant global health issue, affecting 8–12% of couples of reproductive age, with male factor infertility contributing to 30–50% of cases. Despite advances in assisted reproductive technologies, particularly intra-cytoplasmic sperm injection, male infertility remains understudied compared to female infertility. This review aims to explore the genetic underpinnings of male factor infertility, including identified genetic mutations, chromosomal abnormalities, and epigenetic factors, and to investigate the broader health implications for affected men. The emerging data suggest that male infertility is not only a reproductive issue but also a potential predictor of chronic diseases, including autoimmune disorders, cancer, and premature death. Additionally, the inheritance of male factor infertility and its potential effects on offspring health remains indeterminate. Studies have shown conflicting results regarding the impact of parental infertility and fertility treatments on the semen quality and reproductive health of offspring. This review summarizes the current understanding of the genetic causes of male infertility, highlights the impact of chromosomal disorders, reviews the spectrum of sperm quality and hormonal profiles, and discourses on the need for further research to clarify the relationships between parental subfertility, male infertility, and offspring health. By investigating these complex interrelationships, future research can help shape more effective diagnostic and treatment strategies for male infertility and its broader implications for men’s health and future generations.https://www.mdpi.com/2673-4397/5/1/2genetic causesmale infertilitymale subfertilitymen’s healthoffspring healthsemen quality
spellingShingle Kristian Black
Sofie Ølgaard
Amelia A. Khoei
Clara Glazer
Dana A. Ohl
Christian Fuglesang S. Jensen
The Genetic Landscape of Male Factor Infertility and Implications for Men’s Health and Future Generations
Uro
genetic causes
male infertility
male subfertility
men’s health
offspring health
semen quality
title The Genetic Landscape of Male Factor Infertility and Implications for Men’s Health and Future Generations
title_full The Genetic Landscape of Male Factor Infertility and Implications for Men’s Health and Future Generations
title_fullStr The Genetic Landscape of Male Factor Infertility and Implications for Men’s Health and Future Generations
title_full_unstemmed The Genetic Landscape of Male Factor Infertility and Implications for Men’s Health and Future Generations
title_short The Genetic Landscape of Male Factor Infertility and Implications for Men’s Health and Future Generations
title_sort genetic landscape of male factor infertility and implications for men s health and future generations
topic genetic causes
male infertility
male subfertility
men’s health
offspring health
semen quality
url https://www.mdpi.com/2673-4397/5/1/2
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