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What is Klinefelter’s Syndrome?

What is Klinefelter’s Syndrome?

What is Klinefelter’s Syndrome?


Klinefelter’s Syndrome is a genetic disease encountered in men. Influencing men’s development, this condition is usually not noticed until adulthood. A healthy person has 46 chromosomes consisting of 23 pairs. Sex chromosomes are found as XY in men, and XX in women. The men with Klinefelter’s Syndrome have more chromosomes. And this condition has no specific reason.

How is Klinefelter’s Syndrome Diagnosed?

Chromosome analysis is made in the diagnosis of gene related diseases. Klinefelter’s Syndrome is usually diagnosed by the physician when men visits the doctor with the infertility complaint. Being highly common, the disease is seen in 1 in 600 men.

Klinefelter’s Syndrome is diagnosed when the result of the chromosome analysis turns out to be 47 XXY while it is expected to be 46 XY. FSH and LH hormones are higher in the blood. The insufficient production of testosterone hormone delays the start of adolescence and lead to infertility in the future.

What Are the Symptoms of Klinefelter’s Syndrome?

The symptoms can vary based on its type; while some of them are seen babyhood and youth, others may be revealed in the adulthood.

Symptoms Seen in Babies

• Thin and weak muscles

• Low motor development (late walking, crawling and standing up)

• Delay in talking • Testes undescending to scrotum at birth

• Silent, calm and easygoing personality traits

Symptoms Seen in Children and Young People

• Taller than average

• Longer feet, larger hips and shorter body structure

• Small and tight testes

• Small penis

• Gynaecomastia (Large and big breast tissue,

• Lower joy of life

• Thin and weak bone structure

• Insufficiency in expressing thoughts and feelings

• Having difficulty in socializing

• Problems in spelling, math, reading-writing

• Less muscle in the body during adolescence when compared to the peers

• Little amount of body hair

• Delay in adolescence or no adolescence

Symptoms Seen in Adults

• No sperm or little sperm

• Little sexual urge

• Weak bones

• Small testis and penis

• Increase in belly fat

• Taller than average

• Little hair on the face and body

Can Men with Klinefelter’s Syndrome Become Fathers?

Studies done in the recent years have shown that men with Klinefelter’s Syndrome could have sperms even a little. In case sperm cannot be found by ejaculation, it could be fund by surgical methods. Sperm cells hidden in the tissues can be found by TESE operation under anesthesia to be used in IVF treatment. Sperms found are fertilized with the egg through Microinjection (ICSI) method.

The embryos do not have the risk of carrying this disease because Klinefelter’s Syndrome is a genetic disease. Depending on the development, the embryos which are ready for transfer on the 3rd or 5th day are sent to Pre-implantation Genetic Test (PGT). Through PGT test, the healthy embryos are determined and used for the transfer.

If no live sperm is found and no healthy embryos are obtained in the genetic screening, Sperm Donation (Banka Sperm) treatment can be considered.

You can get information through our free WhatsApp line for all questions you would like to ask about Sperm Donation and Klinefelter’s Syndrome. You can safely make your dreams true with a successful IVF team.


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