Genetic causes

Genetic factors can be a major cause of reduced fertility in men. Changes in genetic material primarily affect the development, number, and function of sperm. They often lead to significantly reduced sperm quality or even a complete absence of sperm in the ejaculate (azoospermia).

AZF deletion: parts of the Y chromosome are missing from the man's genetic material. This must be suspected if the semen analysis shows a very low sperm concentration (less than 1 million sperm per milliliter).

Cystic fibrosis: This is a disease that primarily affects the lungs and pancreas. It has been scientifically proven that children of men with severe oligozoospermia (less than 5 million sperm per milliliter) or azoospermia have a significantly increased risk of developing cystic fibrosis.

Klinefelter syndrome: Men with this syndrome have an extra X chromosome (XXY), which leads to reduced male hormone production and impaired sperm quality, often even to a complete failure of sperm production. Such a disorder can only be treated with the help of intracytoplasmic sperm injection (ICSI). If there is a complete failure of sperm production, the couple wishing to have children would have to resort to donor sperm.
 

Dr. Leonhard Loimer holds the ÖÄK diploma in genetics, which covers the fundamentals of human genetics, family tree analysis, genetics in pediatrics, neoplasms and tumor predisposition, care of mutation patients and families, epidemiology, law, and ethics. He is available to provide you with comprehensive advice.