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Genetics of Azoospermia: Comparison
Please note this is a comparison between Version 2 by Conner Chen and Version 1 by Csilla Krausz.

Azoospermia affects 1% of men, and it can be due to: (i) hypothalamic-pituitary dysfunction, (ii) primary quantitative spermatogenic disturbances, (iii) urogenital duct obstruction. Known genetic factors contribute to all these categories, and genetic testing is part of the routine diagnostic workup of azoospermic men. The diagnostic yield of genetic tests in azoospermia is different in the different etiological categories, with the highest in Congenital Bilateral Absence of Vas Deferens (90%) and the lowest in Non-Obstructive Azoospermia (NOA) due to primary testicular failure (~30%). Whole-Exome Sequencing allowed the discovery of an increasing number of monogenic defects of NOA with a current list of 38 candidate genes. These genes are of potential clinical relevance for future gene panel-based screening.

  • azoospermia
  • infertility
  • genetics
  • Exome
  • NGS
  • NOA
  • Klinefelter syndrome
  • Y chromosome microdeletions
  • CBAVD
  • congenital hypogonadotropic hypogonadism
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