Abstract：
We report the case of a 42-year-old man with bronchiectasis who had a history of infertility treatment for obstructive azoospermia. Young\'s syndrome was suspected based on the triad of obstructive azoospermia, sinusitis, and bronchiectasis. He had normal electron microscopy findings, normal nasal nitric oxide levels (116 nL/min), and no situs inversus. However, we found compound heterozygous variants in CFAP221. This led to a diagnosis of primary ciliary dyskinesia (PCD). Distinguishing PCD from Young\'s syndrome in patients with the triad of obstructive azoospermia, sinusitis, and bronchiectasis is challenging. Young\'s syndrome may be a phenotype of PCD.
摘要：
我们报告了一名42岁的支气管扩张患者，该患者有阻塞性无精子症的不孕症治疗史。根据梗阻性无精子症三联征怀疑Young综合征，鼻窦炎,还有支气管扩张.他有正常的电子显微镜检查结果，正常的鼻腔一氧化氮水平（116nL/min），也没有反坐。然而,我们在CFAP221中发现了复合杂合变体.这导致原发性纤毛运动障碍(PCD)的诊断。阻塞性无精子症三联征患者PCD与Young综合征的鉴别,鼻窦炎,支气管扩张是具有挑战性的。Young综合征可能是PCD的一种表型。
