Azoospermia Diagnosis

Azoospermia is the absence of sperm in the semen, but this doesn’t always indicate a total lack of sperm production in the testes. In some cases, sperm is produced, but in so small numbers that it doesn’t appear in the semen. In cases of obstructive azoospermia, sperm is produced in sufficient quantities but cannot be released during ejaculation due to a blockage in the ejaculatory duct. In such scenarios, sperm can be retrieved directly from the testes through a biopsy. To assess the likelihood of finding sperm via biopsy, a comprehensive evaluation with the following tests is essential.

What is Included

Karyotype

We assess the number and structure (size and shape) of the chromosomes in peripheral blood cells. Abnormalities in the karyotype are often the genetic cause of infertility and/or recurrent miscarriages.

Y chromosome microdeletions

We detect the presence or absence of the AZF regions of the Y chromosome, which is present only in males. A deletion in the AZFa region means there is zero probability of finding sperm in the testes with TESE. A deletion in the AZFb or AZFb+c region indicates that there are minimal chances of finding sperm, whereas if the deletion is in the AZFc region, there is a 50% chance of finding sperm.

Cystic Fibrosis Mutations

Patients with cystic fibrosis are infertile in most cases due to congenital bilateral obstruction of the vas deferens. This means that spermatogenesis occurs normally in the testes, but the sperm cannot exit. Therefore, if there is obstructive azoospermia (no sperm in the semen) and it is proven to be due to mutations in the cystic fibrosis gene, we know that it is possible to retrieve sperm from the testes through biopsy.

Hormones

We evaluate the hormones that regulate spermatogenesis (sperm production): FSH – Follicle-stimulating hormone, LH – Luteinizing hormone, Testosterone, Estradiol, SHBG, and those associated with infertility: Prolactin, TSH – Thyroid-stimulating hormone.

Personalized Advice

Based on the results, we provide personalized advice for addressing infertility.

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Azoospermia Diagnosis

Azoospermia refers to the complete absence of spermatozoa in the semen. However, this doesn’t necessarily mean that the testes aren’t producing sperm at all.

Learn more