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The Y Chromosome Determines Maleness02:19

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The Y chromosome is a sex chromosome found in several vertebrates and mammals, including humans. In addition to 22 pairs of autosomes, the human males have one X chromosome and one Y chromosome. In these organisms, the presence or absence of the Y chromosome determines the development of male traits.
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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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Related Experiment Video

Updated: Nov 10, 2025

Vessel-Sparing Microsurgical Longitudinal Intussusception Vasoepididymostomy to Treat Epididymal Obstructive Azoospermia
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Genetics of Azoospermia.

Francesca Cioppi1, Viktoria Rosta1, Csilla Krausz1

  • 1Department of Biochemical, Experimental and Clinical Sciences "Mario Serio", University of Florence, 50139 Florence, Italy.

International Journal of Molecular Sciences
|April 3, 2021
PubMed
Summary

Genetic testing aids azoospermia diagnosis, with varying yields across causes. Discovering new genes for Non-Obstructive Azoospermia (NOA) can improve patient care and genetic counseling for families.

Keywords:
CBAVDKlinefelter syndromeNGSNOAY chromosome microdeletionsazoospermiacongenital hypogonadotropic hypogonadismexomegeneticsinfertility

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Area of Science:

  • Reproductive Medicine
  • Human Genetics
  • Genitourinary Medicine

Background:

  • Azoospermia, affecting 1% of men, has diverse etiologies including hypothalamic-pituitary dysfunction, spermatogenic disturbances, and urogenital duct obstruction.
  • Genetic factors are implicated across all azoospermia categories, making genetic testing a standard diagnostic approach.
  • The diagnostic yield of genetic testing varies significantly by etiological category, being highest in Congenital Bilateral Absence of Vas Deferens (90%) and lowest in Non-Obstructive Azoospermia (NOA) (~30%).

Purpose of the Study:

  • To identify and classify monogenic defects contributing to Non-Obstructive Azoospermia (NOA).
  • To assess the clinical relevance of newly discovered NOA genes for future diagnostic screening.
  • To explore the overlap of genetic factors in male and female gonadal failure.

Main Methods:

  • Whole-Exome Sequencing (WES) was employed to discover novel genetic defects in NOA.
  • Candidate NOA genes were classified based on associated testicular histology.
  • Comparative analysis was performed to identify shared genes between male and female gonadal failure.

Main Results:

  • Whole-Exome Sequencing has identified an increasing number of monogenic defects associated with NOA, with 38 candidate genes currently listed.
  • These identified genes are categorized according to the underlying testicular histology of the NOA phenotype.
  • A significant proportion (approximately 37%) of candidate genes are implicated in both human male and female gonadal failure.

Conclusions:

  • The discovery and validation of novel NOA genes hold significant potential to revolutionize patient management strategies.
  • Genetic testing in azoospermia shows variable diagnostic utility depending on the specific etiological category.
  • Genetic counseling for NOA patients should encompass female family members due to shared genetic factors in gonadal failure.