Abstract: Objective To study the relationship between Y chromosome microdeletion and gonadal hormone level, and to provide evidences for diagnosis and treatment of male infertility patients. Methods Fifteen sequence tagged sites in Y chromosome were measured by multiplex PCR technology in 798 cases of male infertility patients, and gonadal hormone level was measured by the electrochemiluminescence technology, and 100 healthy normal fertile male were detected as the control group. Results There were 40 Y chromosome microdeletion patients of the 798 infertility patients including 27 cases of azoospermia and 12 cases of severe oligozoospermia, and the deletion of SY254+SY255 was the most common type of Y chromosome microdeletion. The level of FSH in the AZF deletion group was significantly higher than that of the group without Y chromosome deletion and control group (P<0.05). Conclusion The common microdeletion region is AZFc on Y chromosome, and SY254+SY255 are the most common type of Y chromosome microdeletion. The level of FSH in the AZF deletion group is significant increased.

Key words: Y chromosome microdeletion, gonadal hormone, infertility