Diagnosis of male infertility: oligozoospermia and azoospermia - analysis of microdeletions in AZFa, AZFb and AZFc regions of the Y chromosome

Diagnosis of male infertility: oligozoospermia and azoospermia - analysis of microdeletions in the AZFa, AZFb and AZFc regions of the Y chromosome

Clinical significance

Variations occurring within the AZF region are coupled to the Y chromosome and inherited only in the male line. Infertility associated with mutations within the Y chromosome is a condition thatóry disrupts the production of spermów through absence (azoospermia), reduced production (oligospermia), or the production of spermów with abnormal shape and movement , making it difficult or impossible to have offspring. Mutations of this type are the second most common genetic cause of male infertility (the first is Klinefelter syndrome). Infertility associated with mutations within the Y chromosome occurs in about 1 in 2,000 to 1 in 3,000 men of all ethnic groups. This condition accounts for 5 to 10 percent of cases of azoospermia or severe oligospermia. Diagnosis of the deletion has prognostic value thatóra influences the choiceór of therapy. Men with Y-chromosome-related infertility usually have no other symptomsów. Occasionally, they may have small testicles or undescended testicles (cryptorchidism).

Patient preparation

Material: EDTA blood

Interventions

The basis for detecting genetic alterations by molecular biology methods is the amplification of the patient's genetic material by polymerase chain reaction (PCR). Note that someóre drugs inhibit the PCR reaction, making it difficult or impossible to perform the test. These drugsów include someóre anticoagulants (such as heparin) and antiviral drugs (such as acyclovir). If the patient is taking drugs that inhibit PCR or preparations with unknown effects on PCR, blood should be drawn when the plasma concentrations of these drugsóre relatively lowest, such as just before the next dose. Drugs taken by the patient with potential inhibitory effects on PCR should be noted on the referral form. If in doubt, contact the Laboratory