• PMID: 12422349
• Gene Name: CFTR
• Condition: Congenital bilateral absence of the vas deferens (CBAVD), obstructive azoospermia, male infertility
• Association: Case report: 23-year-old Asian man from a consanguineous pedigree referred to the regional cystic fibrosis unit after a diagnosis of congenital bilateral absence of the vas deferens
• Population size: 1
• Population details: 1 congenital bilateral absence of the vas deferens
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Congenital bilateral absence of the vas deferens (CBAVD), obstructive azoospermia, male infertility

Cystic fibrosis presenting as acute pancreatitis and obstructive azoospermia in a young adult male with a novel mutation in the CFTR gene

Conway SP, Peckham DG, Chu CE, Ellis LA, Ahmed M, Taylor GR.

Cystic fibrosis is rare in the Asian population, and is often associated with consanguinity and rare genotypes. We report on a 23-year-old Asian man from a consanguineous pedigree referred to the regional cystic fibrosis unit after a diagnosis of congenital bilateral absence of the vas deferens during investigations for infertility. A detailed history revealed several previous episodes of acute pancreatitis. Full diagnostic appraisal showed homozygosity for a novel cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation, but normal sweat test and nasal potential difference studies. An endoscopic retrograde cholangiopancreatogram (ERCP) showed chronic pancreatitis with bulky side branches. The vas deferens and the pancreas appeared exquisitely sensitive to mild CFTR dysfunction. Patients with cystic fibrosis and unexplained upper abdominal pain should be screened for pancreatitis, and consideration should be given to screening patients with idiopathic pancreatitis for mutations in the CFTR gene. CI - Copyright 2002 Wiley-Liss, Inc. FAU - Conway, Steven P AU - Conway SP AD - Regional Cystic Fibrosis Unit, Seacroft Hospital, Leeds, UK. FAU - Peckham, Daniel G AU - Peckham DG FAU - Chu, Carol E AU - Chu CE FAU - Ellis, Lucy A AU - Ellis LA FAU - Ahmed, Mushtaq AU - Ahmed M