台灣地區少精症及非閉鎖性無精症之基因異常盛行率
董聖雍、張奕凱、張宏江
臺大醫院 泌尿部
Genetic abnormalities associated with severe oligospermia and non-obstructive azoospermia in Taiwan
Sheng-Yung Tung, Yi-Kai Chang, Hong-Chiang Chang
Department of Urology, National Taiwan University Hospital, Taipei, Taiwan
Purpose: Genetic abnormalities are relatively common in infertile males. Determining the frequency and types of major genetic abnormalities in severe male infertility are of great value for clinical decisions. Our study aimed to identify the prevalence of genetic abnormalities among Taiwanese infertile male patients.
Materials and Methods: Cytogenic study of patients with severe oligospermia (SOS) and non-obstructive azoospermia (NOA) were retrospectively reviewed in our hospital from March 2010 to March 2018. Total 92 patients were enrolled in the study. Patient characteristics, genetic analysis, semen qualities were all assessed.
Results: Among all patients, 27.2% (25/92) patients had genetic abnormalities detected. Sex chromosomal abnormalities (47, XXY phenotype) were detected in 7.6% (7/92) patients. Y chromosomal microdeletions were detected in 19.6% (18/92) patients, including 2.2% (2/92) with AZFa microdeletions, 6.5% (6/92) with AZFb microdeletions, 14.1% (13/92) with AZFc microdeletions. Three out of 92 (3.3%) patients had both AZFb and AZFc microdeletions.
Conclusion: High prevalence of genetic abnormalities were noted in our study, comparable to previous studies held in other countries. This indicated patients with severe oligospermia and non-obstructive azoospermia should consider receiving genetic testing, which may help determine the choice of assisted reproductive technique and minimize the risk of transmitting genetic defects.