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Related Concept Videos

Infertility in Males01:23

Infertility in Males

262
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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Varicocelectomy for nonobstructive azoospermia should be considered only in carefully selected patients: opinions based on treatment experience at Dokkyo Medical University.

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Flow Cytometric Analysis of Biomarkers for Detecting Human Sperm Functional Defects
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Systematic molecular analyses for 115 karyotypically normal men with isolated non-obstructive azoospermia.

Yuki Muranishi1,2, Yoshitomo Kobori3, Yuko Katoh-Fukui1

  • 1Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

Human Reproduction (Oxford, England)
|March 21, 2024
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Summary

Copy-number variations (CNVs) in azoospermia factor (AZF) regions and gene mutations are significant causes of non-obstructive azoospermia (NOA) in Japanese men. These genetic factors contribute to male infertility, highlighting the need for comprehensive molecular diagnostics.

Keywords:
MLPAcopy-number variationmutationnon-obstructive azoospermiaspermatogenic failurewhole exome sequencing

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Area of Science:

  • Human Genetics
  • Reproductive Medicine
  • Molecular Biology

Background:

  • Isolated non-obstructive azoospermia (NOA) is a significant cause of male infertility.
  • Previous studies implicated sex chromosomal abnormalities, AZF-linked microdeletions, and monogenic mutations in NOA.
  • Over 160 genes have been identified as potentially causative or susceptibility genes for NOA.

Purpose of the Study:

  • To investigate the role of copy-number variations (CNVs) in azoospermia factor (AZF) regions and monogenic mutations in Japanese men with isolated NOA and a normal 46,XY karyotype.
  • To determine the frequency and spectrum of genetic causes contributing to NOA in this population.

Main Methods:

  • Systematic molecular analyses were performed on 115 unrelated Japanese male patients with isolated NOA.
  • AZF-linked CNVs were assessed using sequence-tagged PCR and multiplex ligation-dependent probe amplification.
  • Whole exome sequencing (WES) was employed to screen for nucleotide variants, followed by an optimized sequence kernel association test (SKAT-O) for novel gene discovery.

Main Results:

  • Thirteen types of AZF-linked CNVs were identified in 54.8% of patients, with a significant frequency (30.7%) even after excluding common polymorphisms.
  • Known NOA-causative AZF-linked CNVs were found in 7.8% of cases.
  • Rare damaging variants in known causative or spermatogenesis-associated genes were identified in another 7.8% of patients, suggesting oligogenicity in some cases.

Conclusions:

  • Various AZF-linked CNVs are prevalent in Japanese NOA patients, expanding the understanding of structural variations in spermatogenic failure.
  • The findings underscore the etiological heterogeneity of isolated NOA, with CNVs and monogenic mutations playing substantial roles.
  • These genetic variations should be considered in the molecular diagnosis of male infertility and spermatogenic failure.