Abstract

ObjectiveUp to 40% of infertile men remain without a recognized cause (i.e., idiopathic infertility). We aimed to identify, categorize, and report the supposed causes of male infertility in a cohort of white-European men presenting for primary couple’s infertility, by using a thorough and extensive baseline diagnostic work-up.Material and MethodsCross-sectional study of 1,174 primary infertile men who underwent a thorough diagnostic work-up including: detailed medical history, physical examination, hormonal assessment, genetic testing, semen analyses; semen and urine cultures; testis color Duplex US. Men without any identified causal factor were considered as idiopathic. Six different etiological categories were established, and their prevalence was estimated. Logistic regression models estimated the risk of missing causal identification.ResultsA possible causal factor was identified in 928 (81%) men. Hypogonadism was the most frequent identified cause (37%), followed by varicocele (27%). Genetic abnormalities were found in 5% of patients. A causal factor was more easily identifiable for the more severe infertility cases, and azoospermic men were those less likely to be defined as idiopathic (OR and 95% CIs: 0.09; 0.04-0.20). Relative proportion of identified causes remained constant during the 10-year study period (p>0.43).ConclusionsDue to a more comprehensive and extensive diagnostic work-up, at least one underlying cause of male infertility factor in 4 out of 5 infertile men can be identified. Men with a less severe phenotype remain a clinical challenge in terms of establishing a possible etiologic factor. Further studies are needed to assess which subset of infertile men deserves a more extensive work-up.

Highlights

  • Lack of both effective therapeutic strategies and identifiable underlying causes are common features in infertile men [1]

  • By using a thorough and extensive baseline diagnostic work-up, we aimed to identify, categorize, and report possible aetiologies of male factor infertility of a large homogenous cohort of white-European men presenting for primary couple’s infertility, and to report the rate of those men with an identifiable cause that would have otherwise classified as having idiopathic infertility with the standard diagnostic work-up

  • We evaluated the prevalence of idiopathic infertility and each specific cause according to different severity of baseline clinical presentation; for this specific purpose, we evaluated cause prevalence at different sperm concentration thresholds, under the assumption that this parameter represents a proxy of Male factor infertility (MFI) severity

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Summary

Introduction

Lack of both effective therapeutic strategies and identifiable underlying causes are common features in infertile men [1]. Up to 60% of cases remain without a recognized cause, and are referred to as idiopathic according to various series [1,2,3]. Overall, this group of men is an interesting epidemiological cohort for several reasons. This group of men is an interesting epidemiological cohort for several reasons This sample represents an ideal cohort for studying new possible etiological factors linked to male subfertility and infertility [1,2,3]. The lack of a clear explanation for their reproductive issue represents a factor of psychological distress in infertile men [5]

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