Young's Syndrome

Q: What is Young's syndrome?

Answer:

Young's syndrome is usually a triad of 

• bronchiectasis
• sinusitis, and 
• obstructive azoospermia 

WITHOUT any evidence of Cystic Fibrosis (CF). 

Previously, it was attributed to childhood exposure to mercury. Now, its etiology is linked to genetically occurring primary ciliary dyskinesia (PCD). 

#pulmonary

#genetics

References:

1. Hendry WF, A'Hern RP, Cole PJ. Was Young's syndrome caused by exposure to mercury in childhood? BMJ 1993; 307:1579.

2. Ito M, Morimoto K, Ohashi M, Wakabayashi K, Miyabayashi A, Yamada H, Hijikata M, Keicho N. 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. 2025 Feb 1;64(3):423-428. doi: 10.2169/internalmedicine.3978-24. Epub 2024 Jul 4. PMID: 38960684; PMCID: PMC11867755.