Primary Ciliary Dyskinesia Due to Compound Heterozygous Variants in CFAP221 with Obstructive Azoospermia: Young's Syndrome May Be a Phenotype of Primary Ciliary Dyskinesia.
Intern Med
; 2024 Jul 04.
Article
en En
| MEDLINE
| ID: mdl-38960684
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.
Texto completo:
1
Base de datos:
MEDLINE
Idioma:
En
Revista:
Intern Med
Asunto de la revista:
MEDICINA INTERNA
Año:
2024
Tipo del documento:
Article
País de afiliación:
Japón