Y chromosome microdeletions

Y chromosome microdeletions are small losses of fragments of the Y chromosome that are involved in male fertility since spermatogenesis (sperm production) is affected.

The Y chromosome is the smallest chromosome and contains a series of specific genes located in the AZF region. When a man presents any alteration, damage, or loss of a fragment of this chromosomal region, he will be diagnosed with a malefactor that causes infertility.

Typically, Y chromosome microdeletions cause a low number of sperm in the ejaculate (oligozoospermia) or a complete absence of sperm in the semen (azoospermia). For this reason, it is advisable to carry out a genetic study of microdeletions in patients with a normal karyotype, but with some of these seminal alterations.

This genetic study is performed from a blood or saliva sample from the male to extract his genetic material (DNA). Next, a polymerase chain reaction (PCR) will be carried out to detect each of the zones (AZFa, AZFb and AZFc) that make up the AZF region. The possible results would be:

Display of all AZF zones

the patient is not a carrier of any microdeletion on the Y chromosome.

Absence of some AZF zone

the man presents microdeletions of the Y chromosome.