etting Pregnant and Sperm Health: Klinefelter’s Syndrome

Klinefelter’s Syndrome is a chromosomal disorder that affects male fertility and can therefore impact a couple’s chances of getting pregnant. There are a variety of Klinefelter’s Syndrome symptoms which are indicative of this condition, and diagnosis can help men with this sperm health disorder receive the proper treatment they need.

What is Klinefelter’s Syndrome?

Klinefelter’s Syndrome occurs when a male has an extra X chromosome. Normally, individuals have 46 chromosomes; two chromosomes, X and Y, determine the sex of an individual. Girls have two X chromosomes while boys are normally born with an XY chromosome pair. Males with Klinefelter’s Syndrome have 47 chromosomes and are born with an XXY sex chromosome combination; for this reason, this disorder is also known as 47 XXY syndrome.

Klinefelter’s Syndrome affects male fertility as it results in the absence of, or low level of sperm in the ejaculate.

Seven percent of all infertile men have some type of chromosomal disorder, two-thirds of whom have Klinefelter’s Syndrome.

Cause of Klinefelter’s Syndrome

Occurring in approximately one of every 500 to 1000 male babies, Klinefelter’s Syndrome is a genetic disorder. The chromosome can be paternally related, however women who give birth over the age of 35 are at a greater risk of giving birth to a baby with this chromosomal disorder.

Klinefelter’s Syndrome Symptoms

The most common symptom of Klinefelter’s Syndrome is infertility.

Physical symptoms can also be indicative of this chromosomal disorder. Men with the disorder usually have a small penis and testes. Other physical symptoms include a lack of public, facial and armpit hair, enlarged breasts (gynecomastia) and abnormal body proportions (short torso and long legs).

Men with Klinefelter’s Syndrome have high levels of gonadotropins, hormones that stimulate testicular function.

Because the condition can also affect a man’s development during his youth, young males with this condition will usually have physical, social and language development issues, and are generally tall and thin in stature.

In addition, the disorder is linked to an increased risk of such conditions as attention deficit hyperactivity disorder (ADHD), depression, lung disease, breast cancer and autoimmune disorders such as lupus.


There are a variety of fertility tests that can be conducted in order to determine whether an individual has Klinefelter’s Syndrome. Such diagnostic tests include:

  • semen count: assesses the level of sperm in semen
  • sperm follicle stimulation hormone: measures levels of follicle stimulating hormone (FSH), which are linked to sperm production
  • serum testosterone: measures testosterone levels in blood
  • serum estradiol levels: assesses the level of a type of estrogen via a blood test; high levels are associated with Klinefelter’s Syndrome
  • serum luitenizing test: assesses level of this hormone, of which high levels are linked to chromosomal disorder
  • karotyping: analyzes using either a blood test or bone marrow test for the presence chromosomal abnormality

Klinefelter’s Syndrome Treatment

Because Klinefelter’s Syndrome is an inherited condition, individuals should see a genetic counsellor prior to trying to get pregnant in order to assess the risk of passing on an extra X chromosome to male offspring, as well as to assess the increased risk of miscarriage associated with this disorder.

Men with Klinefelter’s Syndrome usually require infertility treatment; the focus of this treatment is not to minimize the condition but to harvest any existing sperm for assisted reproductive technology (ART) procedures such as intracytoplasmic sperm injection (ICSI). As such, sperm produced in the testes can often be retrieved via a testicular biopsy in a procedure known as surgical sperm retrieval. If sperm retrieval is not successful, a donor sperm is an option.

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