Genetic causes

Genetic factors can play an important role in reduced fertility. Changes in genetic material particularly affect the development, number, and function of sperm. This can lead to significantly reduced sperm quality or even a complete absence of sperm in the ejaculate (azoospermia).

Common genetic causes:

• Structural chromosome abnormalities (e.g., translocations): Can impair fertility and increase the risk of miscarriage.
• Klinefelter syndrome (47,XXY): The most common chromosomal disorder in men with azoospermia or severely reduced sperm production.
• Y chromosome deletions (AZF regions): Microdeletions in the so-called azoospermia factor region lead to varying degrees of disruption in sperm production.
• CFTR mutations: Can cause congenital absence of the vas deferens (CBAVD) and often occur in men who are carriers of mutations that are also responsible for cystic fibrosis.

Our medical director, Dr. Leonhard Loimer, holds the ÖÄK diploma in genetics. This diploma covers, among other things: the basics of human genetics, family tree analysis, genetics in pediatrics, tumor predisposition, care of patients with mutations and their families, as well as epidemiological, legal, and ethical aspects. Dr. Loimer is available for detailed genetic counseling.