Frequency of microdeletions in the azoospermia factor region of the Y-chromosome of New Zealand men

N Z Med J. 2000 Nov 10;113(1121):468-70.


Aim: To determine the frequency of microdeletions in the azoospermic factor (AZF) genes on the Y-chromosome of New Zealand men attending the Fertility Centre.

Methods: World Health Organisation criteria were used to classify men as normospermic, oligozoospermic, severely oligozoospermic, and azoospermic. Microdeletions were detected from DNA of semen samples by the sequence-tagged site polymerase chain reaction.

Results: Microdeletions were detected in 20% (3/15) of azoospermic men, 4% (2/50) of severely oligozoospermic men, 3.2% (2/62) of oligozoospermic men, and 0.7% (1/141) normospermic men. One azoospermic man had multiple non-contiguous deletions. Overall, 5.5% of infertile men had at least one microdeletion in the long arm of the Y-chromosome. One severely oligozoospermic man and one oligozoospermic man had produced unassisted pregnancies.

Conclusion: New Zealand men attending a Christchurch fertility centre have a similar frequency of microdeletions in the Y-chromosome to other populations. Azoospermic men have a higher frequency of microdeletions than men with less severe spermatogenic failure. Men with microdeletions can have reduced fertility, but are not necessarily sterile.

MeSH terms

  • Case-Control Studies
  • Chromosome Deletion*
  • Gene Frequency / genetics*
  • Genetic Testing
  • Humans
  • Male
  • New Zealand / epidemiology
  • Oligospermia / diagnosis
  • Oligospermia / epidemiology*
  • Oligospermia / genetics*
  • Polymerase Chain Reaction
  • Prevalence
  • Sequence Analysis, DNA
  • Sequence Tagged Sites
  • Severity of Illness Index
  • Sperm Count
  • Sperm Motility
  • Y Chromosome / genetics*