Abstract

Abstract Introduction Cystic Fibrosis (CF) is a genetically inherited disease with a highly variable phenotype that results from a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Manifestations of CF include impacts on function of the lungs, liver, pancreas, and reproductive system. While CF is known to be associated with infertility due to congenital bilateral absence of the vas deferens (CBAVD), men with CF also frequently report additional sexual and reproductive health issues, often linked to low testosterone levels. Objective In this study we aimed to investigate the prevalence of low testosterone (T) in men with CF and CBAVD, and hypothesized hypothesized that low T would be under-evaluated and under-treated in the CF population compared to CBAVD and the general population. Methods We used TrinetX, a multi-institutional insurance claims database, to create a cohort of men over 18 years old with CF or CBAVD. We then queried each cohort to assess how many men had a T level measured, and if hypogonadal (below 300 ng/dL), how many received T therapy (TT). Results There were 14,033 men over age 18 years with a diagnosis of CF and 3,439 men over age 18 with a diagnosis of CBAVD in the TriNetX database. Serum T levels were measured in 10.1% of men with CF and 8.9% of men with CBAVD. While mean serum T level in both groups was within the normal range (defined as a total testosterone >300 ng/dL), 32.7% (n=464) of the men with CF and 43% (n=132) of the men with CBAVD were hypogonadal. The majority of men with T<300 ng/dL went on to appropriately receive TT: 59.3% of men with CF and 78% with CBAVD (figure 1). Conclusions Our data suggests that hypogonadism is highly prevalent in men with CF and CBAVD. These data suggest that despite a high rate of infertility in men with CF and CBAVD, the majority do not undergo hormonal evaluation. Investigation and appropriate treatment of TD may significantly improve quality of life. Disclosure No.

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