The diagnosis of azoospermia or severe oligospermia should be made with at least two complete semen analyses. The basic hormonal workup for nonobstructive azoospermia should include a morning total serum testosterone and FSH/LH. If abnormalities are found, the levels of serum prolactin, estradiol and thyroid function (especially if thyroid dysfunction is suspected clinically) should be evaluated as indicated.Azoospermia in a man with significant abnormalities in the hormonal profile strongly suggests a diagnosis of nonobstructive azoospermia. In cases where the hormonal profile is normal with no clear clinical indications of the cause of azoospermia, a testicular biopsy should be considered to evaluate the presence and extent of spermatogenesis.
Additional workups to evaluate nonobstructive azoospermia include genetic evaluation with karyotype analysis. In addition, Y chromosome microdeletion analysis should be performed. Although there is no specific treatment for any of these various genetic abnormalities, the value of a genetic workup lies in the provision of proper genetic counselling for the couple, who, in most cases, with the use of advanced assisted reproductive technology, may have biological offspring. The potential risks and implications of passing genetic or congenital disorders to future generations should be addressed with these couples. In virtually all reproductive centres offering advanced assisted reproduction, genetic counselling is available or compulsory to couples diagnosed with genetic abnormalities.