Klinefelter's Syndrome is a genetic disorder that affects males. According to a study, 1 out of every 500 to 1000 males is found to have been affected by this condition. Typically, all people have 46 chromosomes (23 pairs out of which one pair determines the sex of the baby - either an XX combination or an XY combination) . XX chromosomal pair is present in females and XY chromosomal pair is present in males. Men affected with Klinefelter's Syndrome have at least one additional X chromosome (XXY combination) which is the cause of various health problems including infertility in males.

Normally, males suffering with Klinefelter's Syndrome have a single extra X chromosome but this syndrome can be more severe in case males have multiple extra X chromosomes (Poly - X KS).

Causes of Klinefelter's Syndrome

The first basic point to understand is that Klinefelter's Syndrome is genetic and not an inherited disorder which means it will not pass on to the child of the male suffering from this syndrome. The main cause behind this problem is a random error during cell division that produces an egg or a sperm cell with an extra copy of X chromosome. When such an egg or a sperm fertilize, the embryo and eventually the baby gets an extra copy of X chromosome resulting in the problem of Klinefelter's Syndrome.

Symptoms of Klinefelter's Syndrome

Most of the times, symptoms of KS are not visible because XXY males look like normal males and they tend to lead normal life as other males. In case the male is suffering from Poly X - KS, symptoms are more visible and severe. Some of the common symptoms of Klinefelter's Syndrome are listed below.

1. Boys with KS are slightly taller than the normal boys of their age. They also tend to have extra fat around the belly and wider hips.
2. Low testosterone levels in the body, therefore slow pubertal development. 
3. During puberty, boys affected with KS can also be noticed having symptoms like abnormal breast growth, decreased energy levels, less muscular body and less facial and body hairs.
4. Boys with Klinefelter's Syndrome can also be seen dealing with learning, reading and language problems. They suffer with works involving extensive reading and writing and therefore they might have problems handling their classwork in schools. You might also notice an unclear speech with KS boys.
5. During adulthood, males with KS have extremely small testes and penis. They suffer with problems like infertility.
6. Males with Poly - X KS suffer with problems like very low IQ, positioning of eyes (eyes set further apart, upward slanted eyes etc.), and one or more physical disabilities.

Very rarely, symptoms are also visible at the time of birth. Some of these symptoms are listed below.

1. Cryptorchidism or undescended testicles when a baby is born. The problem is more common in premature born babies.
2. Hypospadias, a birth defect in which the opening that carries urine out of the body is placed underside the penis. The problem occurs in around 4 out of every 1000 new born baby boys according to a study.
3. Small penis size.

Diagnosis of Klinefelter's Syndrome

A rare number of men are diagnosed with Klinefelter's Syndrome before puberty because they show very mild symptoms (which can be easily overlooked) or no symptoms at all. Most commonly, a male comes to know about the problem when he is investigated for infertility issues (like azoospermia). Further investigations are carried out to determine the actual cause. The basic investigation that is done is through chromosomal tests. The Chromosomal Test is also called as karyotype analysis in which sample of blood is taken that is inspected in the laboratory for number, shape and presence of extra chromosomes.

If there is a family history of genetic defects, then the female can also undergo certain tests during pregnancy to determine if her child has Klinefelter's Syndrome. These tests (amniocentesis or chorionic villus sampling) are not routine tests and are done only on need basis seeing the family history of the couple.

Risks for Males with Klinefelter's Syndrome

Males suffering with Klinefelter's Syndrome have an increased risk of following medical conditions.

Hypogonadism - This is a medical condition in which the male's body does not produce enough testosterone hormone which is responsible for the growth of male sex organs. Due to lack of testosterone, the size of testes is small and sperms are not produced leading to infertility. This condition is also responsible for less facial and pubic hair in men.

Gynaecomastia - This is a medical condition in which there is an enlargement of breast tissues in males. This happens because of increased levels of oestrogen which is a female hormone responsible for growth of breast tissues in females. Also, since testicles do not function properly and produce enough testosterone, the levels of oestrogen go up in case of KS males. Because of the presence of an extra X chromosome (female chromosome), such imbalances are common in males suffering from Klinefelter's Syndrome.

Osteoporosis - This is a medical condition in which the bones become thin and porous. The problem is generally common in 40% of the KS males. Testosterone hormone in the male body is responsible for the bone health and because of the lack of enough testosterone in male body, osteoporosis is a major medical condition that is common in KS men.

Apart from the above listed medical conditions or risks in KS men, there can be possibilities of breast cancer, testicular cancer, taurodontism, thromboembolism (deep vein thrombosis), rheumatoid arthritis and diabetes.

Treatment of Klinefelter's Syndrome

Depending on the age and problems/symptoms which a boy or an adult male is suffering from, following treatments can be given.

Testosterone Therapy - Since testosterone hormone is responsible for a male's sexual, psychological and physical health, a testosterone replacement therapy for a KS man is of utmost importance. Replacement therapy can be given through injections or gels. For the proper dosage, one should consult an endocrinologist. Normal levels of testosterone can increase muscle mass (prevent from osteoporosis), help in growth of facial hairs and can also increase the sex drive. One point to be noted is that the testosterone replacement therapy cannot reverse infertility.

Speech and Language Therapy - This is required if KS is diagnosed during childhood. Speech and language therapists can help the KS child overcome the speech problems.

Psychosocial Therapy - Most of the KS boys deal with the problem of shyness and lower self confidence. To boost their self confidence, right counseling can really benefit them.