Klinefelter syndrome

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47 X-X-Y syndrome

The most common symptom is infertility. Other symptoms may include:

• Small, firm testicles
• Small penis
• Only a little bit of pubic, armpit, and facial hair
• Sexual problems
• Enlarged breasts ( gynecomastia)
• Tall height
• Abnormal body proportions (long legs, short trunk)

Adults may come to the doctor because of infertility. School-age children may be brought in to because of learning problems.

The following test results may be found:

• Karyotyping shows 47 XXY.
• Semen count is low.
• Serum testosterone is low.
• Serum luteinizing hormone is high.
• Serum follicle stimulating hormone is high.
• Serum estradiol levels (a type of estrogen) is high.

Review Date: 12/11/2006
Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.