Prevalence of Low Testosterone in Men With Cystic Fibrosis and Congenital Bilateral Absence of the Vas Deferens: A Cross-sectional Study Using a Large, Multi-institutional Database

Abstract

To investigate the prevalence and treatment rates of low testosterone (T) in men with cystic fibrosis (CF). CF is a genetic disease with highly variable presentation that results from a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Phenotypic manifestations of CF include alterations in function of the lungs, liver, pancreas, and reproductive system. Despite the well-described association between CF and infertility secondary to congenital bilateral absence of the vas deferens (CBAVD), men with CF report further sexual and reproductive health concerns, many of which are often associated with low testosterone. We queried the TrinetX database for men over 18years old with CF or CBAVD to assess what percentage of men had a T level measured, and if hypogonadal (below 300ng/dL), what percentage received T therapy (TT). We hypothesized that low T would be under-evaluated in the CF population. Serum T levels were measured in 10.1% of men with CF and 8.9% of men with CBAVD. Within each group, 464 men with CF (32.7%) and 132 with CBAVD (43.0%) demonstrated low T. The majority of men with T<300ng/dL went on to appropriately receive TT: 59.3% of men with CF and 78% with CBAVD. Our data suggests that hypogonadism is highly prevalent in men with CF and CBAVD. Investigation and appropriate treatment of testosterone deficiency may significantly improve quality of life.