Primary Ciliary Dyskinesia Due to Compound Heterozygous Variants in CFAP221 with Obstructive Azoospermia: Young's Syndrome May Be a Phenotype of Primary Ciliary Dyskinesia.

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Tác giả: Minako Hijikata, Masashi Ito, Naoto Keicho, Akiko Miyabayashi, Kozo Morimoto, Masakazu Ohashi, Keiko Wakabayashi, Hiroyuki Yamada

Ngôn ngữ: eng

Ký hiệu phân loại: 623.853 Temperature controls and air conditioning

Thông tin xuất bản: Japan : Internal medicine (Tokyo, Japan) , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 677161

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 considered pathogenic 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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