According to the World Health Organization, about 15% of couples worldwide suffer from infertility, and malefactors account for 40-50% of overall infertility. 15% of them are sperm synthesis disorders affected by genetic defects. At present, the two main genetic defects that induce infertility are Klinefelter syndrome and Y chromosome microdeletion.

Klinefelter syndrome is the most common sex chromosome disease, with an incidence of 1/500~1/800. It is a sex chromosome abnormalities disease, also called congenital hypoplasia of testis, which means the sex chromosomes do not separate during meiosis, obtained two or more X chromosomes in single-cell, clinical manifestations may appear muscle weakness, tall stature, short genitalia, breast hypertrophy, testicular fibrosis, and luminal occlusion, etc. It causes infertility without sperm in the patient's semen. Klinefelter syndrome is the most common reason for male infertility.

The incidence of Y chromosome microdeletion is 1/4000, next only to Klinefelter syndrome. It is also the second main reason for man's infertility. The regions regarding spermatogenesis in the Y chromosome contain AZFa, AZFb, and AZFc. Any deletion of these regions may inhibit spermatogenesis. In 2013, EAA/EMQN publish the best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions. It suggests that Y chromosome microdeletion testing should become a regulatory examination to oligospermia and azoospermia patients, and the necessary examination for assisted reproductive technology.

Fluorescent PCR-capillary electrophoresis was applied to amplify multiplex PCR in a single-tube reaction to qualitatively detect azoospermia Factor in Y chromosome microdeletion, and multiple Short Tandem Repeat (STR) polymorphism sites in the sex chromosome. The results could assist in the diagnosis of the oligospermia and azoospermia resulted from Klinefelter syndrome and Y chromosome microdeletion, as a reference for the treatment of assisted reproductive technology.