Description Klinefelter and Turner’s syndrome
Klinefelter’s syndrome
Is a disease caused unnecessary X sex chromosome. Affected are always men who thus have three sex chromosomes (two X and one Y) very rarely present more X chromosomes. A healthy person has only ever two sex chromosomes. In the case of females is correct combinations XX, XY male case. Klinefelter’s syndrome is the most common chromosomal disorder whose incidence is about 1 per 1,000 disabled man healthy. It is interesting that this disorder has up to twice as much as men, but only half of them show some symptoms and the disease is diagnosed. The main result of this syndrome are small testes and infertility (sterility).
Turner syndrome
Is a disease caused by the absence of the X chromosome. Affected are always women who have only one sex chromosome. Their listing will appear X0. Never the man who would therefore have had only one Y chromosome and no X, because this is not compatible with life. Without any X chromosome can not live. The incidence of this syndrome is 1: 2000.
Risk factors
Both syndromes are known risk factors. In the case of Turner’s syndrome have been X chromosome missing in the sex cell, or lost after the merger of male and female sex cells, but the reason why this happens is unknown. Conversely, if Klinefelter syndrome obtain gametes (sperm or egg) two sex chromosomes. After the merger, the newly formed three individual XXY sex chromosomes. The cause is unknown again. Obviously there will be some genetic predisposition, waiting to be discovered. Someone talks about elderly women at conception, as is the case of Down syndrome, but it was again confirmed.
Prevention Klinefelter and Turner’s syndrome
Since no known causes of these chromosomal disability is perhaps not their prevention. There are opinions on certain genetic predisposition or age of the parents, but nothing has been confirmed yet.
Symptoms
Klinefelter’s syndrome
Disability men are always infertile or have reduced fertility, at least when it is necessary to use assisted reproduction. Often conduct disorder and higher brain functions. Men have hypoplastic testes and (small testes), which produce little male sex hormone testosterone. Because of this lack of secondary sexual characteristics. Disability therefore not a typical male figure, hair or male voice. Azoospermia is also present, which are not present in the ejaculate sperm. Often it can be a manifestation of gynecomastia (enlarged breast tissue). Patients may get sick later osteoporosis (thinning of the bones) and have a greater susceptibility to cancer of the breast tissue, and embryonic tumors. They also have a greater predisposition to diabetes (diabetes mellitus), lung disease and pulmonary anomalies. More often, they are also affected by inflammatory disease of the joints (rheumatoid arthritis) than is common in the majority population.
Turner syndrome
All patients with this syndrome are short stature and almost all have ovarian dysgenesis (impaired development of the ovaries). Their gonads usually produce sufficient amounts of sex hormones and patients are infertile. For the vast majority of women affected by this syndrome appears menstruation and secondary sexual characteristics (female pubic hair, breast growth, the female body shape etc.). Many patients have found anomalies in the shape of the body, such as the broad chest with distinctly spaced nipples, skin Duplication in the neck and shoulders (pterygium coli).Very often are present swelling of the hands and feet, low hairline borders and nail growth disorder.They can complicate the whole situation congenital heart defects, kidney and hearing disorders.Most patients are mentally developing normally. In the social behavior are frequent tendency toward shyness and depression.
The situation may worsen greater predisposition to developing diabetes (diabetes mellitus), thinning of the bones (osteoporosis) due to lack of female sex hormones and inflammation of the thyroid gland (thyroiditis).
Diagnosis of Klinefelter syndrome and Turner
Both diseases can be confirmed by genetic tests. The patient is a blood sample, which is sent on genetics and there is determined the wrong number of sex chromosomes.
Very often the diagnosis can be made even more of prenatal (before birth), when they can show the ultrasonographic abnormalities of the heart, kidneys and many others. This leads to further testing. First the sampling amniotic fluid (amniocentesis) or chorionic villus sampling. For this material to obtain fetal cells and subjected to genetic testing. In case of a positive result, it is up to the parents whether the child leave or opt for artificial termination of pregnancy (abortion). It is very important to leave the decision up to the parents and do nothing is not to force, just to give them as much information and answer their questions.
Treatment with Klinefelter syndrome and Turner
Both syndromes are caused by the wrong number of sex chromosomes and are thereforeuntreatable because most genetic disorders still do not know how to treat and unfortunately long time to come.
However, it is very important to help alleviate the symptoms and treat the complications that living patients as possible would improve. As I mentioned earlier, patients in both cases they lack enough sex hormones. Therefore, sometimes at Klinefeltrova syndrome administered testosterone.
If a patient suffers significant gynecomastia (excessive breast tissue), it is possible to its surgical removal.
It is also important to support prevention as a psychotherapist depression etc. In the case of Turner syndrome can be administered growth hormone as prevention of very small stature.
Further possible applications of female sex hormone, which helps develop secondary sexual characteristics and prevents them from excessive thinning of the bones. It is very important to monitor patients for the possible development of complications.
Complications Klinefelter and Turner’s syndrome
A serious complication may be congenital heart defects. The most common of these is coarctation of the aorta. This is a narrowing of aorta, which may prevent sufficient blood supply to the lower body.
Another flaw is bicuspid aortic valve, which is more susceptible to damage. Under normal circumstances, it is always tricuspid.
Because sex hormone deficiency is a risk of osteoporosis. Osteoporosis is excessive bone loss, which may result in an increased incidence of fractures and the formation of scoliosis (distortion of the spine).
Approximately one third of patients with Turner syndrome, a disorder of the thyroid gland.
Very common are the various inflammations (thyroiditis), which are resolved by surgical resection and then artificial gland hormones, thyroid administration. Patients are also more prone to develop diabetes. In the case of Klinefelter syndrome is often found to lower intellect. Patients suffering from Turner or Klinefelter syndrome are more susceptible to the formation of malignant tumor (cancer).
Other names: monosomy X in women and XXY syndrome, women with one sex chromosome, X0 syndrome, gonadal dysgenesis, undeveloped gonads and men with two X chromosomes