Delayed diagnosis of females with respiratory presentation of cystic fibrosis did not segregate with poorer clinical outcome

ObjectiveDoes a delay in diagnosis exist in females with cystic fibrosis (CF) presenting with respiratory symptoms alone. Does it segregate with poorer clinical outcomes?Study Design and SettingA set of 3,851 patients registered with the UK CF Database (diagnosed 1986–2003) were divided into four mutually exclusive categories by mode of presentation: meconium ileus or distal intestinal obstruction syndrome (MI/DIOS); positive family history; newborn screening; and symptoms excluding MI/DIOS. The last symptom category was subdivided to create a group for respiratory symptoms alone.ResultsFemales presenting with respiratory symptoms alone were diagnosed 9 months later than males (median age of diagnosis in males 22 months, n = 325; females, 31 months, n = 322; P = .028). No gender differences were observed for anthropometric, lung function, microbiological, supplemental feeding, or time since diagnosis using discriminant analysis applied to all patients (n = 461, Wilks' λ = .97, P = .15) or to patients divided by genotype: ΔF508/ΔF508 (n = 168, Wilks' λ = .97, P = .69), class I–III genotype (n = 251, Wilks' λ = .96, P = .41), or class IV–V genotype (n = 73, Wilks' λ = .90, P = .50) presenting with respiratory symptoms alone.ConclusionsA relative delay in diagnosis exists in female patients presenting with respiratory symptoms alone compared with males. This does not, however, segregate with a significantly poorer clinical phenotype in the UK.