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Volume 22, Issue 6 (November 2020) 22, 642–648; 10.4103/aja.aja_13_20

The association between the two more common genetic causes of spermatogenic failure: a 7-year retrospective study

Hong-Ge Li, Li-Hong Fan, Bei Liu, Ye-Qing Qian, Min Chen, Yi-Xi Sun, Min-Yue Dong

Women's Hospital, School of Medicine, Zhejiang University, Hangzhou 310006, China

Correspondence: Dr. MY Dong (dongmy@zju.edu.cn)

Date of Submission 19-Aug-2019 Date of Acceptance 14-Jan-2020 Date of Web Publication 01-May-2020


Chromosomal abnormalities and Y chromosome microdeletions are considered to be the two more common genetic causes of spermatogenic failure. However, the relationship between chromosomal aberrations and Y chromosome microdeletions is still unclear. This study was to investigate the incidence and characteristics of chromosomal aberrations and Y chromosome microdeletions in infertile men, and to explore whether there was a correlation between the two genetic defects of spermatogenic failure. A 7-year retrospective study was conducted on 5465 infertile men with nonobstructive azoospermia or oligozoospermia. Karyotype analysis of peripheral blood lymphocytes was performed by standard G-banding techniques. Y chromosome microdeletions were screened by multiplex PCR amplification with six specific sequence-tagged site (STS) markers. Among the 5465 infertile men analyzed, 371 (6.8%) had Y chromosome microdeletions and the prevalence of microdeletions in azoospermia was 10.5% (259/2474) and in severe oligozoospermia was 6.3% (107/1705). A total of 4003 (73.2%) infertile men underwent karyotyping; 370 (9.2%) had chromosomal abnormalities and 222 (5.5%) had chromosomal polymorphisms. Karyotype analysis was performed on 272 (73.3%) patients with Y chromosome microdeletions and 77 (28.3%) had chromosomal aberrations, all of which involved sex chromosomes but not autosomes. There was a significant difference in the frequency of chromosomal abnormalities between men with and without Y chromosome microdeletions (P< 0.05).

Keywords: azoospermia factor; chromosomal aberrations; infertile men; nonobstructive azoospermia and oligozoospermia; spermatogenic failure; Y chromosome microdeletions

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