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What are genetic causes of male infertility?
Male infertility can in some cases be due to detrimental alterations in the man’s genetic material – his DNA. In such cases, the infertility has a genetic cause.

How common are genetic causes of male infertility?
Genetic causes can be identified in one in every four to five men with severe infertility, meaning men who have no sperm cells in the ejaculate. In cases of reduced semen quality, genetic causes are rarely found.

Which are the most common genetic causes of male infertility?
The three most common genetic causes of male infertility are Klinefelter syndrome, microdeletions of the Y chromosome, and mutation in the CTFR gene. These causes give rise to rather different situations, which are described separately below.

How are genetic causes of male fertility diagnosed?
If analysis of a semen sample shows that a man has no sperm cells or very few sperm cells in the ejaculate, the doctor will have a blood sample analysed for genetic or chromosomal alterations.

Can genetic causes of male infertility be treated?
Genetic causes of male infertility cannot be treated. However, some men who are infertile because of genetic or chromosomal alterations can still have children by use of different assisted reproduction techniques. Details are provided below for the most common genetic causes of male infertility.

Klinefelter syndrome
Klinefelter syndrome is the most common genetic cause of non-obstructive azoospermia. Non-obstructive azoospermia is the situation where no sperm is found in the ejaculate, and where this is not due to an obstruction of the ways leading the sperm from the testes to the tip of the urethra.

Klinefelter is a chromosomal disorder. Rather than having 46 chromosomes, including the two sex chromosomes X and Y (46,XY), boys and men with Klinefelter syndrome have an additional X chromosome (47,XXY).

Whereas most men with Klinefelter syndrome do not have any sperm in the ejaculate, mature and viable sperm can be found within the testes in about 40% of men with Klinefelter syndrome.

If a man with Klinefelter syndrome wants to genetically father a child, a