When presented with an azoospermic patient, a thorough history and careful, considered physical examination often leads to a definite or presumptive diagnosis. An algorithmic, logical thought process is important to have in mind when embarking on the evaluation. Adjunctive laboratory tests, such as hormonal assays or genetic studies, are often complementary and/or additive and allow a very precise determination to be made as to the etiologies, either genetic or acquired. It is only with this information that a therapeutic plan can be made for the patient. As will be discussed, a targeted approach to testing is far more satisfying and cost-effective than a blind, shotgun approach.
INTRODUCTIONIn most circumstances, azoospermia is diagnosed when no spermatozoa are detected upon microscopic evaluation of two centrifuged semen samples. As will be seen below, certain conditions only require a single semen specimen when coupled with history, physical examination or both. Azoospermia is found in approximately 1% of all men and up to 15% of infertile men, depending upon the demographic nature of the infertile cohort. 1 Aspermia is defined as a complete absence of seminal fluid during orgasm. Men with azoospermia should be evaluated in an effort to discover the underlying etiology of their condition, which will guide the formulation of a therapeutic plan. 2 A complete history and physical examination is mandatory, while measurement of reproductive hormones (testosterone, folliclestimulating hormone (FSH), luteinizing hormone (LH), prolactin and estradiol) are potentially helpful. Depending upon the certain or suspected diagnosis, a Y chromosomal microdeletion assay, a karyotype, cystic fibrosis mutation analysis, transrectal ultrasonography and renal ultrasonography may be helpful. There should be no single 'azoospermia panel' where all of these studies are ordered in a shotgun approach with no regard to the likely diagnosis. These adjunctive tests are ordered in a targeted way-only those that are necessary based upon the presumptive diagnosis are obtained. This presumptive diagnosis is arrived at by the evaluating clinician with a combination of the mind (what do the history, the semen analysis and the hormonal data suggest), the eyes (what does the patient's appearance suggest) and the fingers (what does the genital physical examination suggest). To be clear in one's thoughts, though, it requires a way of thinking about azoospermia, a process to focus on and an algorithm to follow.