At full or partial X-monosomy is progressing pathological process, which can be diagnosed in a child at birth. It’s a congenital disease of Turner, which turns a little patient in lifelong disability. According to statistics, suffer from the syndrome of the newborn 1 3 000 children born.
Turner syndrome — what is it
Based on the classification code IBC, the disease is referred to as Turner syndrome, which develops exclusively in the female body. By laboratory studies of the karyotype it is possible to define the causes and characteristics of disease Shereshevsky Turner, to identify the optimal treatment regimen. The diagnosis is still in utero. Pregnancy with karyotype 45, X in the vast majority of the clinical pictures ends up performing abortions. Disease Turner’s not fully treated.
Underdevelopment of sex chromosomes leads to late or abnormal maturation of the ovaries, diagnosed with infertility. In females one X chromosome is normal, the second ring shape. In the latter case we are talking about a chromosomal structural abnormality of the number of girls that provokes the failure of female hormones in the body. In boys the disease is Turner’s develops very rarely.
Karyotype syndrome Turner’s
In the result of chromosomal abnormalities the baby is born premature, and his body was diagnosed with a number of dangerous diseases. There are different karyotypes Shereshevsky-Turner, including:
- Karyotype 45KH. This is common type in women, which is characterized by the absence of one chromosome. In patients not observed in primary sexual characteristics, the ovaries are not formed. In their place are formed the connective strands. For procreation disease Turner’s better to resort to IVF.
- A mosaic karyotype. When you set a 45,X0/46,XY is dominated by aplasia of the uterus and vagina, increasing the risk of cancer. To reduce the number of relapses, shows the removal of the ovaries. When the karyotype 45,X0/46,XX ovaries are present, but are negligible in size. Pregnancy the syndrome is possible, but involves assisted reproduction.
Syndrome Shereshevsky-Turner – reasons
The above-stated pathology has nothing to do with age and diseases biological mother. Causes of the syndrome Shereshevsky-Turner lies at the genetic level, or are a consequence of exposure to pathogenic factors. Among the potential prerequisites doctors emit ionizing x-ray radiation, harmful influence of radiation on the fetus. The fact that the inheritance mutation of the gene in disease Turner’s studied the science. It is important to find the reason why could be short chromosome that was preceded by a pathological process.
Syndrome Shereshevsky-Turner – symptoms
Symptoms manifested on the first days of life, determined by clinical, visually. A sick child remains under the supervision of a specialist and upon discharge from the hospital, parents receive a medical report on hand for further treatment. The characteristic symptoms of the syndrome Shereshevsky-Turner, which inspired thoughts of the progressive pathological process represented below:
- widely spaced and inverted nipples;
- pterygoid skin folds on the neck;
- broken ROSTO-weight indices;
- congenital heart disease;
- ulnar deviation of the joints;
- sexual infantilism;
- hip dysplasia;
- primary hypogonadism;
- conductive hearing loss;
- violations of the craniofacial skeleton.
Parents are faced with these typical symptoms for the specified syndrome, then turn to a specialist for diagnosis of the disease Turner’s:
- visible malocclusion;
- high Gothic palate;
- delay in speech development;
- swelling of extremities (hands, knees, feet);
- motor restlessness;
- violation of the sucking;
- the lack of weight gain, stunted growth – up to a maximum of 145 cm;
- emotional instability;
- vomiting fountain.
Syndrome Shereshevsky-Turner diagnostics
On the background of estrogen deficiency osteoporosis progresses, however, parents may not notice the disease in the new born body. The disturbing thoughts suggests the appearance of wing-like folds of the neck and lymphedema, not the manifestation of sexual characteristics. In such cases shown diagnosis of the syndrome Shereshevsky-Turner, which is conducted by blood tests for hormone levels and chemical composition. Aides in determining the final diagnosis are:
- invasive prenatal diagnosis;
- Ultrasound of internal organs, x-rays of bone structures;
- consultations of specialists;
- Echo, ECG;
- MRI of the myocardium.
Syndrome Shereshevsky-Turner – treatment
The wing-fold on the neck requires the intake of synthetic steroids, anabolic steroids, hormonal drugs course. The patient has to remain under the supervision of a specialist to timely identify additional pathologies. It may be abnormalities of the interventricular septum, doubling of the kidneys, micrognathia, pterygium syndrome.
If congenital heart disease is absent, the patient in properly selected drug therapy can live to a ripe old age. Throughout life he has to deal with diagnosed infertility, and conception to use a transplant of the egg donor organism for further gestation. Effective treatment of a syndrome of Shereshevsky-Turner is to maintain the General clinical condition of the patient, preventing its progression.
Life with the syndrome Shereshevsky-Turner
On the life expectancy of this syndrome is not affected, however, disease Turner’s is required to adhere to certain rules. For example, to eliminate physical exertion, regularly visit of specialists, taking prescribed medicines. Life with the syndrome Shereshevsky-Turner provides family life and full-fledged sexual activity, but the question of motherhood is very much in question.
Video: the syndrome Shereshevsky-Turner — the causes