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- Masashi Ito, Kozo Morimoto, Masakazu Ohasi, Keiko Wakabayashi, Akiko Miyabayashi, Hiroyuki Yamada, Minako Hijikata, and Naoto Keicho.
- Respiratory Disease Center, Fukujuji Hospital, Japan Anti-Tuberculosis Association, Japan.
- Intern. Med. 2024 Jul 4.
AbstractWe 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.
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