Cystic Fibrosis Diagnosis in Newborns, Children, and Adults

Carlo Castellani, MD; Barry Linnane, MB, BCh, BAO, DCH, MRCPI, MRCPCH, MD; Iwona Pranke, PhD; Federico Cresta, MD; Isabelle Sermet-Gaudelus, MD, PhD; Daniel Peckham, MD


Semin Respir Crit Care Med. 2019;40(6):701-714. 

In This Article

Male Infertility

Ninety-eight percent of men with CF are infertile due to congenital bilateral absence of the vas deferens (CBAVD). Diagnosis is made following clinical examination of the testes as well as US and sperm analysis.[127] The prevalence of CBAVD occurs in around 1% of the infertile patients and 25% of men with primary obstructive azoospermia. There is a high frequency of CFTR mutations in patients with CBAVD with 28% having a single mutation and 46% being compound heterozygotes.[128,129] Patients may present to the CF center for further investigation following a diagnosis of male infertility due to CBAVD. It is important that such patients are appropriately investigated even when asymptomatic as CF-related symptoms may only develop in adolescence or adulthood.