Klinefelter Syndrome and Male Fertility

One cause of infertility among men, which may be the cause of difficulties getting pregnant, is Klinefelter Syndrome. Klinefelter Syndrome occurs in approximately 1 in every 500 to 1 000 births. This chromosomal disorder can lead to a variety of factors that impair male fertility, such as an imbalance in hormones or low testosterone levels. The following overview can provide a guide of common Klinefelter syndrome symptoms, causes, and treatment options for the purpose of improving fertility among men.

What is Klinefelter Syndrome?

Klinefelter syndrome occurs in men as a result of an extra X chromosome. This is typically due to an error in the development of either the sperm or the egg.

Normally, individuals have a total of 46 chromosomes. Two of these chromosomes, the X and Y, are the sex chromosomes that help develop fertility and sexual characteristics in individuals.

Typically, females will have two X chromosomes (XX) while males will have one X and one Y chromosome (XY). Klinefelter syndrome typically results from the presence of an extra X chromosome in males (XXY); however, in some cases men with Klinefelter Syndrome will have a combination of cells containing both the normal chromosomal combination as well as an extra X chromosome.

These combinations vary from one individual to the next. In some cases, men will have enough XY cells in the testes to be able to conceive.

Klinefelter Syndrome Symptoms

Common Klinefelter syndrome symptoms include the following:

  • small, firm testicles
  • small penis
  • sparse pubic, facial and body hair
  • breast tissue development (gynecomastia)
  • unusual body proportions such as long legs
  • tall stature
  • high levels of gonadotropins
  • physical, social and language development issues
  • infertility

Risks of Klinefelter Syndrome

Klinefelter syndrome has also been associated with the following potential risks:

  • attention deficit disorder (ADHD)
  • depression
  • lung disease
  • breast cancer (extragonadal germ cell tumor)
  • autoimmune disorders such as lupus
  • varicose veins
  • osteoporosis
  • rheumatoid arthritis
  • Sjogren's syndrome

Diagnosing Klinefelter Syndrome

Fertility testing and diagnosis of Klinefelter syndrome usually involves a chromosomal analysis test known as a karyotype. This will involve a blood sample that can determine any chromosomal abnormalities.

Other tests that may be performed include a semen analysis test to check sperm levels as well as hormonal assessments including follicle stimulating hormones (FSH), testosterone hormones, estradiol hormones, and luteinizing hormone (LH) levels.

Treatment Options

Infertility treatment options available for men with Klinefelter's syndrome involve harvesting any existing sperm for assisted reproductive technology (ART). This can involve the following procedures:

  • surgical sperm retrieval/testicular biopsy
  • intracytoplasmic sperm injection (ICSI)

Testosterone therapy is also often used to treat Klinefelter’s syndrome. In some cases, couples opt for donor sperm in order to get pregnant.