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Related Concept Videos

Infertility in Males01:23

Infertility in Males

384
Male infertility affects millions of couples worldwide, arising from various factors that impact different stages of the reproductive process. An endocrine imbalance resulting from conditions like hypogonadism, Klinefelter syndrome, or pituitary disorders can disrupt hormone levels and reduce sperm production. Testicular defects, such as tumors, cryptorchidism, atrophic testes, abnormal sperm morphology, and low sperm count or motility, may arise due to genetic factors, structural...
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Disorders of the Male Reproductive System01:20

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Men's health issues are increasingly recognized as significant, with several conditions posing common threats. Among these, testicular cancer is especially prevalent in younger men, particularly those aged 20 to 35 years. The disease often manifests as a painless mass in the testicles, sometimes accompanied by a sensation of heaviness or a dull ache.
Prostate disorders are another major concern. These conditions can impair urinary flow due to the prostate's location around the urethra....
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Genetic Screens02:46

Genetic Screens

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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
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In Vitro Fertilization01:24

In Vitro Fertilization

602
In vitro fertilization (IVF) is a form of assisted reproductive technology where an egg is fertilized with sperm in a controlled laboratory environment before transferring the resulting embryo into the uterus. This process is designed to help individuals and couples experiencing difficulties conceiving.
The IVF process begins with ovarian stimulation, during which reproductive endocrinologists prescribe hormonal medications to stimulate the ovaries to produce multiple eggs instead of the single...
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Spermatogenesis01:41

Spermatogenesis

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Spermatogenesis is the process by which haploid sperm cells are produced in the male testes. It starts with stem cells located close to the outer rim of seminiferous tubules. These spermatogonial stem cells divide asymmetrically to give rise to additional stem cells (meaning that these structures “self-renew”), as well as sperm progenitors, called spermatocytes. Importantly, this method of asymmetric mitotic division maintains a population of spermatogonial stem cells in the male...
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Updated: Nov 9, 2025

Exploring X Chromosomal Aberrations in Ovarian Cells by Using Fluorescence In Situ Hybridization
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Genetic testing for men with infertility: techniques and indications.

Daniel L Pelzman1, Kathleen Hwang1

  • 1Department of Urology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.

Translational Andrology and Urology
|April 14, 2021
PubMed
Summary

Genetic testing aids male infertility diagnosis, but current methods leave many cases unexplained. New genetic targets are emerging for improved diagnosis and understanding of male infertility.

Keywords:
Genetic techniquesKlinefelter syndromeY chromosome microdeletionmale infertilitynext-generation sequencing (NGS)

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Area of Science:

  • Urology
  • Genetics
  • Reproductive Medicine

Background:

  • Genetic factors contribute to up to 15% of male infertility cases.
  • Current genetic testing includes karyotype analysis (KA), Y-chromosome microdeletion testing, and CFTR mutation testing.

Purpose of the Study:

  • To review current genetic testing methods for male infertility.
  • To explore emerging genetic targets for improved etiological diagnosis.

Main Methods:

  • Review of current clinical guidelines and genetic testing techniques.
  • Discussion of recent research into novel genetic markers for male infertility.

Main Results:

  • Established genetic tests (KA, Y-chromosome microdeletions, CFTR mutations) are widely used.
  • Up to 80% of male infertility cases remain without a clear genetic cause despite current testing.

Conclusions:

  • Current genetic testing is essential but insufficient for diagnosing all male infertility cases.
  • Ongoing research into new genetic targets holds promise for future diagnostic advancements.