Y chromosome microdeletion

The prevalence of Y chromosome deletions and microdeletions is estimated at 1:2,000 to 1:3,000 males 1

Y chromosome microdeletion refers to the loss of a small portion of genetic material on the Y chromosome in males. The Y chromosome is responsible for determining male sex characteristics and plays a crucial role in fertility. Y chromosome microdeletions can result in the absence or reduction of specific genes on the Y chromosome, which can lead to fertility issues or impaired sperm production.

The detection of Y chromosome microdeletions is typically performed through genetic testing, specifically polymerase chain reaction (PCR) analysis, which targets specific markers within the AZF regions

Clinical utility

  • Y chromosome microdeletion testing can identify specific genetic factors contributing to male infertility, guiding appropriate interventions.
  • Results from Y chromosome microdeletion testing can inform personalized reproductive strategies, such as sperm retrieval techniques or the selection of donor sperm during IVF.
  • Y chromosome microdeletion testing in cases of recurrent pregnancy loss (RPL) can help determine if the male partner's infertility due to microdeletions may contribute to pregnancy losses, aiding in counseling and family planning decisions.

When is it recommended?

  • Males with unexplained infertility, as it can help identify underlying genetic causes that may be contributing to fertility issues.
  • Males undergoing in vitro fertilization (IVF) procedures, particularly in cases where severe male factor infertility is present, to guide the selection of appropriate assisted reproductive techniques.
  • Couples experiencing recurrent pregnancy loss (RPL), as male infertility due to microdeletions can contribute to pregnancy losses, and the results can provide insights for counseling and family planning decisions.

Test specification

Technique Variant types TAT Sample requirements
PCR INDEL 2-3 Weeks Male Patient EDTA Blood


  1. Fan, Yuting, and Sherman J. Silber. "Y chromosome infertility." (2019).


What is the purpose of Y chromosome microdeletion testing in infertility?

Y chromosome microdeletion testing helps identify genetic factors that may be contributing to male infertility, providing insights for appropriate interventions and treatment strategies.

Can Y chromosome microdeletions be the sole cause of infertility?

Does a positive Y chromosome microdeletion result mean infertility is inevitable?

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