[杨氏综合征：反复呼吸道感染与无精子症]
[Young's syndrome: recurrent respiratory tract infections and azoospermia].
作者信息
Balbani A P, Marone S A, Butugan O, Saldiva P H
机构信息
Divisão de Clínica Otorrinolaringológica e Departamento de Patologia, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo.
出版信息
Rev Assoc Med Bras (1992). 2000 Jan-Mar;46(1):88-9. doi: 10.1590/s0104-42302000000100014.
INTRODUCTION
Young's syndrome is part of primary ciliary dyskinesia, characterized by repeated airway infections and congenital epididymis obstruction.
CASE REPORT
The authors present the case of a 28-year old male with recurrent rhinosinusitis and pneumonia. Sweat and immunologic tests fell within the normal range. Sperm analyses revealed absence of spermatozoa although spermatogenesis was normal according to the findings in testis biopsy.
DISCUSSION
The final diagnosis was Young's syndrome the first case of the disease reported in Brazilian literature.
CONCLUSIONS
The authors emphasize the need for appropriate diagnosis and genetic counselling as well as differential diagnosis with cystic fibrosis in these cases.
引言
杨氏综合征是原发性纤毛运动障碍的一部分，其特征为反复的气道感染和先天性附睾梗阻。
病例报告
作者介绍了一名28岁男性复发性鼻-鼻窦炎和肺炎的病例。汗液和免疫学检查结果在正常范围内。精液分析显示无精子，但睾丸活检结果显示精子发生正常。
讨论
最终诊断为杨氏综合征，这是巴西文献报道的该疾病首例病例。
结论
作者强调在这些病例中需要进行适当诊断、遗传咨询以及与囊性纤维化的鉴别诊断。
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