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Young syndrome

Orpha number ORPHA3471
Synonym(s) Azoospermia - sinopulmonary infections
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset Adult
ICD-10 -
ICD-O -
OMIM
UMLS
  • C0340037
MeSH
  • C536718
MedDRA
  • 10063689

Summary

Young syndrome is characterised by the association of obstructive azoospermia with recurrent sinobronchial infections. The prevalence is unknown but the syndrome is very rare. Spermatogenesis is normal but azoospermia results from obstruction of the epididymides by thickened secretions. Respiratory function is usually only mildly impaired but bronchiectasis has been reported. The syndrome appears to be transmitted as an autosomal recessive trait but the aetiology is unknown. Despite similarities in symptoms between Young syndrome and cystic fibrosis (CF), several studies have shown that Young syndrome is not associated with mutations in the cystic fibrosis transmembrane regulator (CFTR) gene. The major differential diagnoses include CF and congenital bilateral absence of the vas deferens (CBAVD, see these terms), but sweat-gland and pancreatic function are normal. Patient management involves prompt treatment of sinus and pulmonary infections and fertility treatment options include vasoepididymostomy and intracytoplasmic sperm injection (ICSI).

Expert reviewer(s)

  • Pr Pierre SARDA

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