Male Y chromosome microdeletions
Benefit from Personalized medicine, Targeted procedures and Saved expenses
Low sperm count is not the end
About 15% of infertile men have regions of the Y chromosome missing, called Y chromosome microdeletions (YCMD). This leads to:
• Azoospermia (absence of motile sperm in semen)
• Severe Oligozoospermia (low concentration of motile sperm in semen)
Diagnosis of YMCD is important for personalized treatment, genetic counseling and prevention of transmission to offspring. Mutations are passed to male children from affected parent, while female children are not affected.
Why do the YCMD test panel?
Men with YCMD are unlikely to benefit from invasive procedures like varicocelectomy, thus avoiding expenses and unnecessary invasive procedures. 85% of men with YMCD have deletions in AZFc. Over 1 in 2 have the potential to benefit from testicular sperm extraction (TESE), and studies indicate improved sperm retrieval by micro-TESE. Make better decisions for targeted treatment based on this test.
Genetics of YCMD, and FAQs
The Y chromosome sequence is susceptible to recombination leading to small deletions of the consistent genes. There are three regions of the Y chromosome: AZFa, AZFb and AZFc with deletions affecting any single or combination of regions. About 85% of men have AZFc deletions which are relatively benign and may be treatable.
The test detects deletions in the Y chromosome in all three regions, with limited extended testing to diagnose 45,XX male and q heterochromatin deletion. The test is performed by real-time PCR, which has nearly 100% analytical accuracy and sensitivity. However, other mutations or factors affecting male fertility are not tested.
References
Krausz C et al. 2014, Andrology