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Infertility in Males01:23

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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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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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Mutation analysis in patients with total sperm immotility.

Rute Pereira1, Jorge Oliveira, Luis Ferraz

  • 1Laboratory of Cell Biology, Department of Microscopy, Institute of Biomedical Sciences Abel Salazar (ICBAS), University of Porto (UP), Rua Jorge Viterbo Ferreira, 228, 4050-313, Porto, Portugal.

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Whole Exome Sequencing (WES) identified new genetic variants in patients with total sperm immotility. This research advances understanding of male infertility and potential genetic markers.

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Area of Science:

  • Human Genetics
  • Reproductive Biology
  • Molecular Diagnostics

Background:

  • Sperm immotility is a significant cause of male infertility.
  • Genetic factors contribute to the heterogeneity of sperm motility disorders.
  • Understanding the genetic basis is crucial for diagnosis and potential treatments.

Purpose of the Study:

  • To genetically characterize five patients with total sperm immotility.
  • To identify novel genetic variants associated with sperm immotility.
  • To enhance knowledge of genetic markers for male infertility.

Main Methods:

  • Analysis of five patients with total sperm immotility.
  • Sanger sequencing of seven candidate genes.
  • Whole Exome Sequencing (WES) for comprehensive genetic analysis.
  • Investigation of patients with dysplasia of the fibrous sheath and situs inversus totalis.

Main Results:

  • Identification of nine novel DNA sequence variants using WES.
  • Discovery of a homozygous missense change in CCDC103 potentially linked to dynein arm absence.
  • Identification of a variant in INSL6 associated with sperm immotility.

Conclusions:

  • Whole Exome Sequencing (WES) is an effective strategy for studying complex genetic disorders like sperm immotility.
  • Novel genetic variants in CCDC103 and INSL6 are implicated in sperm immotility.
  • Further studies including expression and functional analyses are warranted to validate findings.