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Information prepared by Lisa Mawhood

Treatment for Klinefelter Syndrome

Klinefelter Syndrome is a spontaneous genetic disorder of males caused by the attainment of an extra X chromosome at conception (genotype XXY instead of the usual XY).  It occurs in one in every 500-1000 male births but the rate is up to 20 times higher in newborns with mental retardation, compared with neuro-typical newborns. It was first discovered in 1942 by a doctor named Klinefelter who published case reports of nine men who had a breast enlargement, a lack of facial and body hair, smaller than average testicles, and an inability to produce sperm.  By 1959, medical researchers realized the role of the extra X chromosome and confirmed it to be the causative factor.

Symptoms of Klinefelter Syndrome

Having the extra sex chromosome can result in behavioral problems, dyspraxia (balance and coordination issues), learning difficulties, and speech disorders in affected boys.  As they reach puberty, the KS boy’s testes may fail to grow to normal size and they might develop breasts (known as gynecomastia).  They might also have psychological problems or be more prone to illness than developmentally typical boys.

Men sometimes have a low sex drive and may suffer from erectile dysfunction and they may get bone fractures and osteoporosis at an earlier age than the general population.

Infertility and Klinefelter Syndrome

Sometimes, however, there are no outward physical or psychological symptoms or signs and it is only discovered by chance when the person is being investigated for infertility.  Men with Klinefelter Syndrome are usually infertile and infertility is one of the leading reasons why patients with KS first attend a doctor.

In previous years it was assumed by the medical profession that all men with the condition were infertile, but due to advances in fertility treatments, it is now possible to extract live sperm from the testes via a biopsy.  Around 95-99% of KS men are infertile but sperm has been found in 50% of them.  Single sperm can then be injected directly into the female partner’s ova (this is called intracytoplasmic sperm injection).  Men with viable sperm are in a minority, but if they receive treatment for Klinefelter Syndrome early on in their lives (from around age 12) and they respond well to treatment, they are more likely to produce viable sperm.  To date, more than 60 children have been born worldwide who have fathers with KS.

What Treatment is Available?

Hormone replacement therapy with the hormones testosterone, estradiol, follicle-stimulating hormone (FSH), and luteinizing hormone (LH) is the mainstay of medical treatment.  Medication is usually given by injection as the tablet form is often not effective enough.  Hormone replacement can help the testes to grow larger, improve sex drive and muscular build, promote facial hair growth, and heighten self-esteem.  It can also reduce the risk of developing osteoporosis. Injections have to be given regularly and for the rest of the person’s life, usually every two weeks. Sometimes HRT may be given by a gel or a patch, which is good news for people who hate injections! Sometimes, a patient may also have a gender identity disorder and identify more with being female.  If this is the case, HRT may not be appropriate for them and counseling should be offered to them prior to the commencement of any treatment.

Other forms of treatment are:

  • Speech Therapy – for boys who have delayed or abnormal speech
  • Behavioral Therapy – to assist with any psychological issues or depression
  • Special Educational Support – to discover strengths and weaknesses and help teachers provide the right resources to affected children to help them get the most from their education
  • Physical Therapy – for boys who have dyspraxia and poor muscle tone, physical therapy helps to improve muscle strength and coordination.
  • Surgery  If a teenage boy or man has developed breasts he may choose to have them removed (mastectomy).  This is not only done for psychological reasons but also because gynecomastia carries an increased risk of breast cancer.

Despite the symptoms of Klinefelter’s and the extra challenges caused by it, most people with KS have normal relationships and the same independence as others.  Life expectancy is also the same as men without the condition so there is no reason why with the right treatment and family support that a person with this diagnosis can’t lead a full and happy life.

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