Last update: 05/06/2006
Background to disease
In 1996 six azoopermic men were found to have Y chromosome deletions involving the distal part of the long arm of the chromosome. This area of the Y chromosome was referred to as the Azoopermia Factor (AZF) region. The deletions varied from 1-3 Mb and the majority of deletions were not detected by routine chromosome analysis. Three AZF regions were defined; a, b and c. These regions are required for normal spermatogenesis. Men with deletions of AZFa and AZFb are generally azoospermic. Men with deletions of AZFc show a more variable phenotype. Pooling the data collected in studies to detect Y deletions showed microdeletions in 12.2% of azoospermic men and 3.4% in oligozoospermic men. 86% of the oligozoospermic men identified with Y microdeletions had a sperm count of below 5 ´ 106 / ml.
Definitions:
Azoospermia – complete absence of sperm from the ejaculate
Oligozoospermia - < 20 ´ 106 / ml
Normal - > 20 ´ 106 / ml
Laboratory Analysis
Contact scientist: Carol Delaney
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Test |
Target reporting time (working days) |
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1. |
Deletion detection by PCR |
10 days |
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2. |
Identification of the extent of the deletion |
Please enquire |