Chen S-U, Lien Y-R, Ko T-M, Ho H-N, Yang Y-S, Chang H-C
Department of Obstetrics and Gynecology, National Taiwan University Hospital, No. 7 Chung-Shan South Road, Taipei, Taiwan.
Arch Androl. 2003 Nov-Dec;49(6):423-7.
The overall incidence of chromosomal abnormalities was 8%. There was no single distinctive feature of semen parameters predictive of the existence of a chromosomal anomaly. All of the patients with obstructive azoospermia had normal karyotypes and AZF. Three patients out of 13 (23%) with nonobstructive azoospermia without 47,XXY had AZF deletions, as well as two (5%) of 43 with severe oligozoospermia. Ninety-two couples underwent 112 ICSI cycles for which a pregnancy rate of 58% was achieved. Five patients with abnormal karyotypes underwent 6 cycles of ICSI that resulted in 1 successful pregnancy. Two patients with AZF deletions achieved pregnancies. One ICSI-derived male had the same AZF deletion as his father, and 1 female baby had no risk of AZF deletion. The authors recommend karyotyping, excluding those with obstructive causes, prior to ICSI for genetic counseling.
染色体异常的总体发生率为8%。精液参数没有单一的显著特征可预测染色体异常的存在。所有梗阻性无精子症患者的核型和AZF均正常。13例非梗阻性无精子症且非47,XXY患者中有3例(23%)存在AZF缺失,43例严重少精子症患者中有2例(5%)存在AZF缺失。92对夫妇接受了112个ICSI周期治疗,妊娠率达58%。5例核型异常患者接受了6个ICSI周期治疗,其中1例成功妊娠。2例AZF缺失患者成功妊娠。1例ICSI衍生男性与其父亲有相同的AZF缺失,1名女婴无AZF缺失风险。作者建议在进行ICSI前进行核型分析,排除梗阻性病因,以进行遗传咨询。