Home » Klinefelter Syndrome – Pictures, Causes, Symptoms, Diagnosis, Treatment

Klinefelter Syndrome – Pictures, Causes, Symptoms, Diagnosis, Treatment

What is Klinefelter Syndrome?

The Klinefelter syndrome is a known genetic condition which affects men/boys. The said disease affects only the male sex giving them an additional X chromosome. This is identified as one of the most common genetic conditions that affect the male sex. Unfortunately, the condition is not made known until the boy comes of age or reaches adulthood.

One of the characteristics of the disease is a defect on testicular growth, making it smaller than the normal size it should be. Because of such defect, the child tends to have lower testosterone levels. There are also instances that men cannot produce viable sperm. Reproductive issues are then included in the manifestations of the syndrome.

Klinefelter Syndrome Showing Most of the Characteristics

According to epidemiological reports, the condition affects about 1 out of 1,000 of born male in the United States. Statistics show that about 250,000 are affected by the syndrome. As this condition is common, it can also cause death once the gene is inherited. There are noted cases where the fetus that developed the extra chromosome dies before birth.

Symptoms, signs & characteristics

Klinefelter syndrome can provide a number of symptoms but are somehow unnoticeable. That explains why the condition is diagnosed late. The following are the said presenting symptoms of the disease:

There is affectation of the physical appearance. The child tends to have weakened muscle and strength compared to other children of the same age. As infants, their attainment of the developmental milestones is somehow late but some can attain normalcy. Muscle control can be difficult for the child. As puberty sets in, the child tends to be taller but has a less muscular built. Facial and body hair is absent. Enlargement of the breast is noted on the teenager. Bone fragility is noted and their energy levels are low. As the teen enters manhood, they acquire health problems easily and have great risk in developing breast cancer, osteoporosis and autoimmune diseases. As they age, they tend to produce little amount of sperm or no sperm at all during ejaculation. Infertility is a great problem for the affected men.

Klinefelter Syndrome Characteristic image

Gynecomastia or the Enlargement of the Breast in Men

The affected has language development problems. A great percentage of the sufferers have language difficulties. They tend to have trouble with expressing their thoughts. Reading problems are also noted. Writing skills are at the same time affected by Klinefelter syndrome.
Social problems are also included in the manifestations. The child or the teenager affected tend to have low confidence levels and self-esteem issues. They tend to be quiet and as they age, attending to activities and other social interactions are impossible.

Klinefelter Syndrome Causes & risk factors

The condition is primarily caused by the genetic mutation or the acquisition of male born babies of an extra X sex chromosome. Normally, males have the XY sex chromosome, determining them of their sex. When it comes to Klinefelter syndrome, the infant has XXY as their sex chromosome. This extra copy determines the problem and provides the disease. This is a known error of the sex chromosome which cannot be altered when acquired. This is a random condition that places great risk if the mother has carried the child at the age of 35 or more.

Genetics

The condition is not inherited, but instead is a result from a genetic alteration. A female sex hormone is known to be XX while a male sex hormone is XY. The alteration with Klinefelter syndrome to the fetus’ sex hormone is the adding of an extra X sex chromosome. This explains why the affected have presenting symptoms that oppose the manhood of the affected. There are reported rare cases that the addition of one X sex chromosome is not enough that two or more are added to them.

Klinefelter Syndrome Karyotype Showing Extra X Chromosome

Diagnosis

The diagnostic examinations indicated for Klinefelter syndrome are the following:

Cytogenetic studies. This shall identify the proposed gene that causes the syndrome. The fetus is being tested prenatally. It is possible that the condition can be diagnosed before birth through the chromosomal evaluation of the fetus.
Gonadal function test. This can evaluate the child’s developmental stages. The child is observed during their childhood days and puberty stage. There shall be low testosterone levels in men.
Hormonal testing. This shall evaluate not only the testosterone levels but also the FSH and LH and growth factor levels. The cortisol levels are also regularly checked in order to assess any form of deficiency.
Imaging study. An echocardiogram is performed in order to assess the condition of the client’s heart. There are instances that the child shall develop mitral valve prolapsed.
Physical examination shall provide a clear sign for Klinefelter syndrome. Those who suffer from the syndrome are said to have a small and firm testicles.

Klinefelter Syndrome Treatment

The treatment for Klinefelter syndrome is aimed in addressing the major manifestations of the disease. The following are the proposed remedies of the syndrome:

Androgen therapy

This is a significant treatment for the affected. This shall replace what the patient is lacking and require at the time of puberty. Accordingly, the treatment is started at the age of twelve years, when puberty sets in. As deficiency is prominent, the use of this therapy can provide normalcy to the growing boy. Testosterone enanthate or cypionate are mostly prescribed by doctors.

Physical therapy

This is necessary as the affected boys tend to have a delayed motor skill thus causing delayed development of muscle tone. Coordination and attaining balance is also thought to be affected that the physical therapy is very helpful in the treatment course.

Fertility treatment

There is a great chance for the affected to have problems with fertility. When the affected male wants to produce an heir, a method for this is done through induced fertilization. A viable sperm is extracted from the testicles and shall then be introduced to an ovum to complete the process of fertilization.

Genetic counseling

This is beneficial in the part of the parents and the possible offspring’s future. Proper information should be disseminated in order for informed choice to be made by the parents.

Mastectomy

This is done when the child or man has gynecomastia. The physical effect of gynecomastia in men can be a source of low self-esteem. Action should be taken in order the affected can have a normal life.

Complications

The condition can become fatal when it has not been controlled or managed properly. Late diagnosis can also cause greater problems to the child. The following are the proposed complications of the disease:

Extratesticular germ cell tumors may develop
Breast cancer
Psychological effect can become a permanent damage
Benign prostatic hyperplasia may develop
Delayed puberty is somehow expected in most cases
Development of varicosities are note