45,X/46,XY GONADAL-DYSGENESIS IN AN INFERTILE ADULT MALE
45,X/46,XY GONADAL-DYSGENESIS IN AN INFERTILE ADULT MALE
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DOI：
10.1159/000282343
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发表时间：
1992-01-01
影响因子：
1.6
通讯作者：
MIRALLINARES, A
中科院分区：
文献类型：
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作者：
GASSOMATOSES, M;PICOALFONSO, A;MIRALLINARES, A
一名33岁男性因不育症被转诊。检查显示双侧阴囊性腺柔软粘稠度小。精液分析显示无精子症。血清促卵泡激素水平升高，睾酮正常。手术探查和组织病理学诊断为发育不良的睾丸，附睾完整，残余的输卵管附着在白蛋白上，输精管和精囊造影显示正常。核型为45、X/46、XY del(Y)(q11)，性腺组织中46XY细胞仅占15%。本文讨论了45、X/46、XY嵌合体的临床谱及这种染色体异常的意义。
A 33-year-old male was referred for infertility. Examination revealed bilateral scrotal gonads of soft consistency and small size. Semen analysis showed azoospermia. Elevated serum follicle-stimulating hormone levels and normal testosterone values were found. Surgical exploration and histopathology diagnosed dysgenetic testes with complete epididymus, and remnants of Fallopian tubes attached to the albuginea, with normal vas deferens and seminal vesicles showed on deferentovesiculography. Kariotype was 45,X/46,XY del(Y)(q11) with only 15% of 46XY cells in gonadal tissue. The clinical spectrum of 45,X/46,XY mosaicism and significance of this chromosomic anomaly is discussed.