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.

Community and Support

At inviTRA we work to make monthly and rigorous information accessible to everyone. If this article has helped you, consider supporting us so we can continue accompanying more people on their journey to parenthood.

Author

Cristina Algarra Goosman

B.Sc., M.Sc.

Psychologist

Graduated in Psychology by the University of Valencia (UV) and specialized in Clinical Psychology by the European University Center and specific training in Infertility: Legal, Medical and Psychosocial Aspects by University of Valencia (UV) and ADEIT.
More information about Cristina Algarra Goosman

Member number: CV16874