Klinefelter Syndrome--When Your Baby Boy Has a Chromosome Abnormality

This is a syndrome which affects only males and it is caused by the wrong number of chromosomes in each cell which upset the natural balance of the body. This upset leads to the male having a more feminine body build (including breasts), underdevelopment of the testicles, and a taller than average height as an adult. Males with this condition may test slightly lower on IQ testing than their siblings, and may have also have trouble talking and hearing. They are also sterile.

Males normally have an X and a Y chromosome in each cell (XY). In Klinefelter Syndrome the male has two X-chromosomes and one Y-chromosome (XXY) in each cell. The physical features of Klinfelter Syndrome are caused by the lower than normal amount of the male sex hormone, testosterone.

Klinefelter's Syndrome occurs about 1 in 1,000 live births, or 1 in 500 male live births. Usually the condition is not obvious at birth. It, most often, becomes suspected at puberty when the secondary sexual characteristics do not develop normally. The testicles remain small and firm, but the penis usually enlarges normally. The breasts begin to enlarge at puberty and there is very sparse facial, armpit and pubic hair growth. Libido is low. Boys with this syndrome tend to be quiet, sensitive and unassertive, but personality characteristics can vary among individual Klinefelter males.

Other symptoms of Klinefelter Syndrome include: A pear-shaped body with abnormal proportions (short trunk, long legs, long arms, lower body larger than upper body); Teeth abnormalities (enlarged pulp and thin tooth surface); Varicose veins, spider veins and clots; Autoimmune disorders (lupus, rheumatoid arthritis, Sjogren's Syndrome); Low energy; Developmental delays; Difficulty with motor skills; Impaired language/speech skills; Learning disabilities; Normal or high IQ; Social interaction difficulties: ADHD; Impulse control disorder; Depression; And low self esteem. Klinefelter males are more likely than other males to be overweight and taller than their fathers and brothers.

Compared to other men, adult males with Klinefelter's Syndrome have an increased risk of developing breast cancer and a chronic inflammatory disease called systemic lupus erythematosus. The chances of developing these conditions are the same as that of normal adult females. They are also at increased risk of developing osteoporosis.

Most of the symptoms of Klinefelter Syndrome are treatable. Surgery can reduce breast size and regular injections of the male hormone testosterone, beginning around 11 or 12 years of age, can promote facial hair growth, strength and a more muscular body type. It can also improve mood and self esteem, increase concentration and increase energy and sex drive.

Sometimes the parents of boys with Klinefelter Syndrome are concerned that their sons will become homosexual. There is no evidence that these males are any more inclined toward homosexuality than are other men. In fact, Klinefelter men may have less interest in sex due to their low testosterone levels, but with regular injections of the male sex hormone, their sex drive cam be brought up to normal levels.

Testosterone injections can sometimes lead to a false sense of security, and men, after receiving the hormone for a time, may conclude they've received as much benefit as possible and discontinue the injections. When they do stop the testosterone injections, their interest in sex almost invariably diminishes until the injections are again resumed.

The following is from the National Institutes of Health Web Site:

What are the treatments for the XXY condition?

The XXY chromosome pattern can not be changed. But, there are a variety of ways to treat the symptoms of the XXY condition.

Educational treatments-As children, many XXY males qualify for special services to help them in school. Teachers can also help by using certain methods in the classroom, such as breaking bigger tasks into small steps.

Therapeutic options-A variety of therapists, such as physical, speech, occupational, behavioral, mental health, and family therapists, can often help reduce or eliminate some of the symptoms of the XXY condition, such as poor muscle tone, speech or language problems, or low self-confidence.

Medical treatments-Testosterone replacement therapy (TRT) can greatly help XXY males get their testosterone levels into normal range. Having a more normal testosterone level can help develop bigger muscles, deepen the voice, and grow facial and body hair. TRT often starts when a boy reaches puberty. Some XXY males can also benefit from fertility treatment to help them father children.

One of the most important factors for all types of treatment is starting it as early in life as possible.

There is much valuable information on the National Institutes of Health's Website for the National Institute of Child Health & Human Development. Please see the link below.