What is klinefelter's syndrome?


Know the basics

What is klinefelter’s syndrome?

Klinefelter’s syndrome is an inherited disorder of males. It can affect different stages of development – physical, language, and social. Normal male sexual characteristics of puberty don’t develop.

How common is klinefelter’s syndrome?

Klinefelter’s syndrome affects about 1 in 400 to 1 in 1000 males.

Know the symptoms

What are the symptoms of klinefelter’s syndrome?

Most teenagers and men have long arms and legs compared with the body trunk. Teenagers may be less muscular than other boys, have problems expressing themselves, be shy, and have trouble being part of a social group.

Men have a low sperm count or no sperm and therefore are infertile. The testicles are small and firm, and some men may have breasts (gynecomastia).

Men may have problems with erections, small penis, poor beard growth, and little underarm or pubic hair.

Symptoms vary greatly. This syndrome leads to osteoporosis (low bone density), an increased risk for breast cancer, and sometimes personality disorders.

There may be some signs or symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

You should contact your doctor if you have any of the following:

  • Slow development during infancy or boyhood. If your son seems to be developing more slowly than other boys, see your son’s doctor.
  • Showing common signs and symptoms of Klinefelter syndrome. They include enlarged breast tissue (gynecomastia), small genitals, and small, firm testicles.
  • Male infertility. If your partner hasn’t gotten pregnant after a year of regular, unprotected sex, see a doctor. Infertility is usually caused by something other than Klinefelter syndrome, but many men aren’t diagnosed with the condition until they realize they’re unable to father a child.

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Know the causes

What causes klinefelter’s syndrome?

The cause is a defect in sex chromosomes. Normal females have a chromosome pattern of 46,XX. Normal males have a 46,XY pattern. In this syndrome, the pattern is 47,XXY. This extra X chromosome interferes with normal male sexual development in the womb and at puberty.

Know the risk factors

What increases my risk for klinefelter’s syndrome?

There are many risk factors for  Klinefelter’s syndrome, such as:

Klinefelter syndrome stems from a random genetic event. The risk of a child being born with Klinefelter syndrome isn’t increased by anything a parent does or doesn’t do. For older mothers, the risk is higher but only slightly.

Understand the diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is klinefelter’s syndrome diagnosed?

No treatment for infertility is possible, because testes cannot make sperm. Replacing testosterone will help the male secondary sexual characteristics. Testosterone, given as an injection or skin patch, leads to normal male muscle development and hair growth (beard, underarms, and genitals). Excess testosterone may cause mood changes, aggressive behavior, abnormal prostate growth, or high blood pressure. Use of the testosterone patch may cause a local skin reaction.

Gynecomastia can be treated surgically (breast reduction). Lumps in the breast should be checked for breast cancer.

Osteoporosis may be treated with testosterone plus enough calcium and vitamin D and regular weight-bearing exercises.

How is klinefelter’s syndrome treated?

The doctor makes a diagnosis by doing a physical examination of a boy who doesn’t develop normally. Analysis of chromosomes (karyotype) done from obtaining a smear from cells inside your mouth gives the number and type of chromosomes. Sometimes, a man sees a doctor because of impotence or infertility. Blood tests show a low level of testosterone (male hormone) and high level of another hormone, follicle-stimulating hormone (FSH).

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage klinefelter’s syndrome?

The following lifestyles and home remedies might help you cope with  Klinefelter’s syndrome:

  • See an endocrinologist if you have concerns about male sexual development or function.
  • See a surgeon if gynecomastia is troubling or you note a breast lump.
  • Call the doctor if you have severe mood swings with testosterone replacement.
  • Call the doctor if you notice sudden bone pain in the back, hip, wrist, or rib.
  • Call the doctor if you have a rash while using a testosterone patch.
  • Don’t put the testosterone patch on the same spot of skin every time, to prevent skin irritation.
  • Ask your doctor about support groups if you’re interested in learning from others with Klinefelter’s syndrome.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

msBahasa Malaysia

Review Date: May 30, 2016 | Last Modified: January 4, 2017

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