Patient Evaluation

Azoospermia may be due to either abnormal sperm production (non-obstructive azoospermia) or normal sperm production in the presence of obstruction (obstructive azoospermia). To determine that a semen sample is truly azoospermic, centrifugation of the semen sample with meticulous microscopic examination of the pellet is necessary. For all patients with azoospermia, a complete history and physical examination is necessary to identify potentially correctable causes of male factor infertility. Typically, the man with non-obstructive azoospermia will have small testes (< 15 cc) with a flat epididymis. Some men may have a history of cryptorchidism. Hormonal evaluation of a man with non-obstructive azoospermia (NOA) will typically demonstrate an elevated serum FSH, with normal or nearly normal testosterone and estradiol levels. Prior to further intervention, we will usually treat any correctable abnormalities that are found on evaluation of a man with NOA, including surgical repair of large varicoceles, correction of hormonal abnormalities, and avoidance of gonadal toxins for at least three months prior to attempted TESE. The diagnosis of NOA can only be definitively made on testicular biopsy, which may be helpful to rule out the unlikely possibility of testicular intratubular germ cell neoplasia (carcinoma-in-situ). 

Men with NOA are also at increased risk for harboring genetic defects that can be transmitted to their children with treatment. These abnormalities include both chromosomal abnormalities, detectable with routine karyotype testing, and Y chromosome microdeletions, so called "AZF(azoospermic factor) defects." Other rare genetic causes of male infertility are nicely reviewed by Mak and Jarvi in J Urology 156:1245-57, 1996. Karyotype testing is available at most major medical centers, as well as at Dianon Laboratories in Stamford, Connecticut. Y chromosome microdeletion analysis, a PCR-based assay of peripheral leukocytes, is available at a few academic centers, including locally at Cornell and NYU as well as at the Genetics & IVF Institute of Fairfax, Virginia. For men who are found to have a genetic abnormality contributing to their infertility, formal genetic counseling is mandatory prior to treatment with assisted reproduction.