Klinefelter Syndrome and Infertility

Klinefelter syndrome (KS) refers to a genetic condition where the males have an extra chromosome making the total number of chromosomes 47 instead of 46 in healthy males. National Human Genome Research Institute report says KS occurs in 1 out of every 500 to 1000 newborn males.

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The signs and symptoms of KS differ in affected individuals. Many males with KS have no significant symptoms or only a few mild symptoms. Therefore, sometimes this condition may go undiagnosed. Symptoms of KS may also vary depending on age.

Babies with KS may have weak muscles, reduced strength, delay in speaking, etc. Signs and symptoms of KS in boys and teenagers are:

• Longer legs, short trunk, broader hips.
• Absent or delayed puberty.
• Taller than average height.
• Small penis.
• Weak bones.
• Low energy levels, etc.

Men with KS may have the following signs and symptoms:

• Low sperm count or no sperm.
• Small testicles and penis.
• Low sex drive.
• Enlarged breast tissue.
• Decreased facial and body hair, etc.

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Doctors usually do a physical examination and ask questions about various symptoms to diagnose KS. Hormone testing and chromosome analysis are two main tests that confirm the diagnosis of KS.

Fertility treatments such as ICSI combined with Preimplantation Genetic Testing can help men with KS to have healthy babies.