Abstract:

Objective To report a case of azoospermia after sex-mismatched bone marrow transplantation,and to analyze the results of Y chromosome detection. Methods Peripheral blood was collected. Chromosome karyotype analysis was performed according to an International System for Human Cytogenetic Nomenclature（ISCN）（2005）. Oral mucosa swab and peripheral blood AZF microdeletions of Y chromosome were detected by multiplex polymerase chain reaction（PCR）. Serum gonadal hormone levels were determined by chemiluminescence. Results The result of chromosome karyotype analysis was 46xx. The deletion was found for all AZF sites in peripheral blood,but the AZF sites in oral mucosa swab all existed. The levels of follicle-stimulating hormone and progesterone were increased. Conclusions AZF microdeletion of Y chromosome may be associated with sperm defect and male infertility. The detection of AZF microdeletion of Y chromosome should be used for azoospermia and oligospermia patients. Since chimerism,it is important to detect AZF microdeletion of Y chromosome both in peripheral blood and somatic cells for azoospermia patients after sex-mismatched bone marrow transplantation.

Key words: Y chromosome, AZF microdeletion, Azoospermia, Sex-mismatched bone marrow transplantation