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| Analysis of AZF microdeletions of Y chromosomal and karyotype of cells from peripheral blood of infertility male |
| Prenatal Diagnosis Center, Beijing Haidian Maternal and Child Health Care Hospital, Beijing, 100089 |
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Abstract To analyze the situations of AZF microdeletions of Y chromosomal and abnormal karyotype of infertility male. Methods: 392 males with oligospermia or azospermia from July 2014 to July 2021 were analyzed retrospectively. AZF microdeletion of Y chromosome was detected by multiplex PCR, and chromosome from peripheral blood was prepared for karyotype analysis. Results: A total of 27 males with AZF microdeletions in varying degrees were detected in 392 infertile males, with the deletion rate of 6.9%. There were 5 kinds of AZFc microdeletions, which included 2 cases with AZFa microdeletion, 0 case with AZFb microdeletion, 11 cases with AZFc microdeletion, and 3 cases with AZFb and AZFc microdeletions. Karyotype abnormalities were detected in 17 cases, which included 8 cases with autosomal abnormalities, 5 case with 47,XXY, and 1 case with 48,XXYY. There were 19 cases with chromosome polymorphisms, which included 6 cases with autosomal polymorphisms, 12 cases with Y chromosome polymorphisms, and 1 case with Y chromosome and autosomal polymorphisms. Conclusion: AZF gene microdeletion of Y chromosome and chromosomal abnormality are the important factors of male infertility, and the deficiency of AZFc is the most common.
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