Klinefelter Syndrome

Klinefelter’s Sendorome is the 46, XY chromosome sequence normally seen in males in the 47, XXY sequence of more X chromosome origin.

Azoospermia, which means that there is no sperm in the semen, is seen in 1% of all men and in 10-15% of men with infertility problems. Chromosomal abnormalities can be seen in 10-12% of non-obstructive azoospermic men, and the most common discrepancy in chromosome analysis is Klinefelter Syndrome.

Klinefelter syndrome is one of the causes of male infertility.

Symptoms of Klinefelter Syndrome

Symptoms of Klinefelter syndrome include;

• High FSH and low testosterone values,
• Small testicle size,
• Long stature, long arms and legs,
• Learning disabilities in some men,
• In addition, hypospadias (absence of the urine hole at the tip of the penis) can be seen in some cases.

Features of Klinefelter Syndrome

• The physical appearance in cases with Klinefelter syndrome is usually long height, long arms, long legs, wide hips.
• There is almost no hair growth in the beard, moustache, arms, legs and chest areas.

Types of Klinefelter Syndrome

There are 2 types of Klinefelter Syndrome:

• Mosaic forms: In these cases, in addition to the abnormal sequence (47, XXY), there is also a normal chromosome structure (46, XY+ and 47, XXY) and the mosaic ratio varies from case to case.
• Non-mosaic forms: In these cases, the chromosome structure is abnormal sequence. So it is only 47 is XXY.

Klinefelter Syndrome Treatment

Since Klinefelter Syndrome is a genetic condition, it is not possible to say that there is a cure.

In cases of Mosaic Klinefelter Syndrome, sperm may be present in the semen. In cases where sperm is seen in the semen, a semen sample is taken from the man on the day the woman’s eggs are collected in IVF treatment. If the number of motile sperm is observed in the semen as much as the number of eggs of the woman, Micro-TESE is not needed.

However, in the non-mosaic form, azoospermia is the rule, sperm is not observed in the semen. The main treatment of cases with non-mosaic Klinefelter Syndrome and cases with Mosaic Klinefelter Syndrome without sperm in the semen is only Micro-TESE. Micro-TESE is performed one day before egg collection. The sperm extraction rate is around 50-55%. You can reach detailed information about the subject from our Micro-TESE page.

Ultimately, in both cases, IVF treatment is the only option to have a child. You can visit our IVF page for more detailed information about IVF treatment processes and answers to your questions.

Issues That Men with Klınefelter Syndrome Should Pay Attention to

In addition to the inability to have children, these men;

• Testosterone deficiency (sexual desire),
• Osteoporosis,
• Metabolic syndrome,
• Type-2 diabetes mellitus (diabetes that occurs at a late age),
• Breast cancer,
• The risk of extragonadal germ cell tumor increases.

For these reasons, it is recommended that cases with Klinefelter syndrome be screened for the above-mentioned diseases in terms of their general health.

You can contact our clinic for detailed information.