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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: Feb 22, 2026

Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay
13:08

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Factor V Leiden is associated with increased sperm count.

T E van Mens1,2, U N Joensen3, Z Bochdanovits4

  • 1Department of Vascular Medicine, Academic Medical Center, Meibergdreef 9, 1105AZ, Amsterdam, the Netherlands.

Human Reproduction (Oxford, England)
|September 21, 2017
PubMed
Summary
This summary is machine-generated.

Factor V Leiden (FVL) carriers have a higher total sperm count than non-carriers. This finding may help explain the mutation's high prevalence, though direct causality is not established.

Keywords:
evolutionfactor V Leidenmale fertilityprothrombin G20210A mutationsperm countspermatogenesisthrombophilia

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Area of Science:

  • Reproductive Medicine
  • Human Genetics
  • Thrombophilia

Background:

  • Factor V Leiden (FVL) mutation is prevalent in Caucasians despite health risks.
  • FVL carriers exhibit higher fecundity, posing an evolutionary paradox.
  • The association between FVL and sperm count remains unclear.

Purpose of the Study:

  • To investigate the association between the Factor V Leiden (FVL) mutation and total sperm count in men.
  • To explore potential biological mechanisms, including genetic linkage and mouse models, underlying this association.

Main Methods:

  • Meta-analysis of three cohorts (total N=2489) including Dutch and Danish men.
  • Analysis of FVL carrier status and total sperm count, adjusting for covariates.
  • Exploration of genetic linkage using haplotype data and sequencing candidate genes.
  • Comparison of spermatogenesis parameters in a FVL-mouse model.

Main Results:

  • FVL carriers demonstrated a significantly higher total sperm count (adjusted mean difference: 31 × 10^6; P = 0.048).
  • The FVL mutation did not enhance spermatogenesis in the mouse model.
  • No significant linkage disequilibrium was found between FVL and nearby polymorphisms.

Conclusions:

  • The Factor V Leiden mutation is associated with increased total sperm count in men.
  • The mechanism behind this association is not directly explained by the FVL mutation's effect on spermatogenesis or genetic linkage.
  • This finding contributes to understanding the evolutionary persistence of the FVL mutation.