Turner Syndrome

Turner syndrome is a genetic disease affecting women only. It happens that their cells do not have the usual two X chromosomes, but they lack an X or part of it.

This problem is manifested in genetic short stature, lack of development of the ovaries and thus infertility. We will see in more detail the symptoms and treatment throughout the article. In infants it is significant lymphedema of hands and feet, one of the alerts that should always be discussed with your pediatrician if they occur. Early diagnosis is crucial.

It is a genetic disorder of a relatively high frequency: one in 2500 or 3000 live-born females are carriers of this anomaly is the loss of one chromosome X, ie, they have only 45 chromosomes instead of 46 are normal.
A third of girls with Turner syndrome are identified shortly after birth. Approximately another third will be identified in the school day by a conspicuous stature and the remaining third will be in adolescence or adulthood because of lack of pubertal development, lack of ovulation or infertility.

Half of the patients are completely 45, X but the other half have mosaicism, ie some of its cells have twice the normal XX chromosome and not others. There are also cases in which the other cell line is 46, XY and 47, XXX and other variations. When a cell line is 46, XY and one 45, X the possibility of disorders is higher, especially in the genitals because of its masculine as tumor problems.

Also identified in 10% of abortions are natural so fairly common cause of pregnancy loss, and yet, it is important that parents know that if they had a daughter with Turner or have lost a pregnancy in this why are not more likely than any other couple that the problem recur.

SYMPTOMS
Not all girls are equally affected by the physical symptoms of the syndrome and there are many variations, influenced to some extent the cell lines with 46, XX or not. Medical supervision is critical to be taking each case in a personalized way.

The most obvious and widespread this problem is genetic short stature. Women with Turner and untreated are low and half of them will not reach 1.45. However, this is a minor problem.

It is more difficult to address the issue of sexual development, as usual a very poor development of primary and secondary sexual characters, ie, their ovaries are atrophied and may have amenorrhea. This causes most people to have serious fertility problems or are sterile, although slightly less than 2% of them come to conceive without help.
In addition to other manifestations are characterized by body such as the broad chest, a deformation in the elbow (cubitus valgus), short neck and broad growth very low hairline and lymphedema of the extremities, which is why he identifies the carriers when they are babies in one third of cases.

Heart problems are a significant percentage of cases, especially in the aorta, so that regular checks are made by the cardiologist in these cases.

To a lesser extent abnormalities in the position of the ears, palate deformity, scoliosis, drooping eyelid, strabismus, deafness, and intolerance to carbohydrates.

Hypothyroidism occurs in 15-30% of patients. Control is usually maintained throughout childhood to measure thyroid function and is therefore an analysis to be performed for all girls who have short stature. In girls with Turner checks must be made ??regardless of the size you are reaching to treatment when hormone levels are inadequate.

We recommend using growth hormone by 5 years and always before age 10 but in a personalized and deciding in each family. Also, most girls with Turner will necesitrar hormone treatment to develop puberty and still need to maintain menstrual cycles.

OTHER PROBLEMS
In Turner syndrome does not cause mental retardation or autism in greater proportion than those in the rest of the population but must be attentive to maifestaciones psychological needs.

That is, there is an expression of the syndrome in psychiatric or neurological problems, but if the experiences of girls can lead to problems and psychological suffering. Short stature, poor development of sexual characteristics and understanding of infertility make it necessary to derive are attentive to the young specialists in mental health as they are circumstances that can cost a lot to accept and assume without emotional pain.

Overprotection and care for the child designated as a major cause of infantile and dependence, and also show pictures of anxiety, insecurity and school adjustment.

Adolescence can be very difficult for these children and may therefore have problems accepting their body image and self-esteem. In adulthood indicates a lower proportion of them forming stable relationships and sexual problems, but psychological issues are clearly influenced by the experiences and environment.

CONCLUSION
Turner syndrome occurs when the baby loses his second sex chromosome and will be a girl with some problems of this condition.
Short stature, possible heart problems are most important, also underlines the lack of ovarian development and not production of sex hormones, which makes present not reach puberty without hormonal support in most cases.
Moreover, girls with Turner syndrome, which is approximately one in 2,500 births, have normal intelligence and good living conditions and emotional health if they receive proper care decu Save Review