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目的研究无精子症及严重少精子症患者Y染色体微缺失的缺失类型与睾丸活检组织学类型的关系。方法收集来我院就诊的病因诊断为Y染色体微缺失的无精子症及严重少精子症患者的完整睾丸活检病理报告。根据Y染色体微缺失区域类型,将研究对象分为A缺失组、B缺失组、B/C/D联合缺失组和C/D联合缺失组。分析Y染色体微缺失的缺失类型与睾丸活检组织学类型、睾丸体积、卵泡刺激素、黄体生成素之间的关系。结果在254例Y染色体微缺失患者中,各缺失组之间睾丸活检组织学类型存在统计学差异(P<0.01)。A缺失组有66.7%(14/21)为唯支持细胞综合征和28.6%(6/21)为成熟停滞;B缺失组有9.7%(3/31)为唯支持细胞综合征和90.3%(28/31)为成熟停滞;B/C/D联合缺失组有44.4%(28/63)为唯支持细胞综合征和52.4%(33/63)为成熟停滞;C/D联合缺失33.1%(46/1 39)为唯支持细胞综合征和有51.8%(72/1 39)为成熟停滞。成熟精子总检出率9.4%(24/254)。各缺失组之间血清卯泡刺激素存在统计学差异(P<0.01)。各缺失组之间在睾丸体积、黄体生成素水平之间比较无统计学差异性(P>0.05)。结论 Y染色体微缺失患者中,不同缺失类型之间睾丸活检组织学类型存在差异。AZFa缺失类型主要表现为唯支持细胞综合征,AZFb缺失类型主要表现为成熟停滞,AZFb联合缺失和AZFc/d联合缺失则表观多样化,主要表现为成熟停滞和唯支持细胞综合征,成熟精子的检出率低。
Objective To study the relationship between the type of deletion of Y chromosome microdeletion and the histological type of testis in patients with azoospermia and severe oligospermia. Methods A complete testicular biopsy report of patients with azoospermia and severe oligospermia diagnosed as Y chromosome microdeletions diagnosed in our hospital was collected. The subjects were divided into A-deficient group, B-deficient group, B / C / D combined deletion group and C / D combined deletion group according to the type of Y-chromosome microdeletion region. The relationship between the type of deletion of Y chromosome microdeletion and histological type of testis, testicular volume, follicle stimulating hormone and luteinizing hormone were analyzed. Results Among 254 cases of Y chromosome microdeletion, histological types of testis biopsies were statistically different between the two groups (P <0.01). 66.7% (14/21) of the A-deficient group had supportive cell syndrome and 28.6% (6/21) had mature arrest; 9.7% (3/31) of the B-deficient group had only supportive cell syndrome and 90.3% 28/31) were mature stasis; 44.4% (28/63) in combined B / C / D group was syndrome-only syndrome and 52.4% (33/63) were mature stasis; C / D joint deletion was 33.1% 46/1 39) with supportive cell syndrome and 51.8% (72/1 39) with maturation arrest. The total detection rate of mature sperm was 9.4% (24/254). There was a statistically significant difference between the two groups (P <0.01). There was no significant difference between testis volume and luteinizing hormone level in each deletion group (P> 0.05). Conclusion There are differences in histological types of testis biopsies among different missing types in patients with Y chromosome microdeletion. The main types of AZFa deletion were cell-supported syndrome, the type of AZFb deletion was mainly maturation, AZFb combined deletion and AZFc / d combined deletion were apparent diversification, mainly manifested as maturation arrest and supportive cell syndrome, mature sperm The detection rate is low.