TURNER SYNDROME CAUSES SYMPTOMS AND TREATMENT

 

Turner syndrome develops in the case of complete or partial monosomy of the X chromosome in women. In about 20% of cases, the disease is associated with X-chromosome mosaicism - a condition in which some cells in the female body have two normal X chromosomes, one of which is not active, and in other cells one of the sex chromosomes is significantly damaged or completely absent. In some cases, the syndrome is associated with the appearance of so-called ring chromosomes or isochromosomes. Ring chromosomes occur when the ends of a chromosome are broken and their long and short arms join together to form a ring. Isochromosomes occur when a lost long or short arm of a chromosome is replaced by an identical copy of the other arm. The giandliverconsultants provide the best gastrointestinal consultants in USA.

There have been cases in which some cells have only one copy of the X chromosome, while other cells have the X chromosome and some Y chromosome material.

symptoms of the disease

The symptoms of the disease vary greatly from patient to patient. Most patients are characterized by short stature due to pathologies of skeletal development, short neck, underdevelopment of secondary sexual characteristics, pathology of the visual and cardiovascular systems, infertility. Despite this list of symptoms, Turner syndrome is not the worst genetic pathology - intelligence in patients is usually preserved, and with the right course of treatment, women with this genetic abnormality can lead a normal life. For patients with this disease are characterized by: short stature, pathology of skeletal development and secondary sexual characteristics. The disease can affect other organ systems. The presence of Turner syndrome does not mean that one patient will have all possible signs of the disease. The syndrome is characterized by a wide range of symptoms and specific external features.

Most children with Turner syndrome are born prematurely and weigh less than normal. Swelling of the arms and legs is common in newborns. Many patients in adolescence become overweight or obese, growth slows down, there is underdevelopment of the mammary glands and uterus, amenorrhea, chest deformity. Occasionally there are such pathologies as horseshoe kidney, hypoplasia of the left heart, narrowing of the aorta, in adulthood - hypertension.

Intelligence in patients is usually normal, but there may be difficulties associated with concentration and memorization of new material. Some children with Turner syndrome in childhood and adolescence have ADHD - attention deficit hyperactivity disorder.

Ulrich-Turner syndrome can be detected before birth with the help of modern diagnostic methods, which will be discussed below. Unlike other genetic diseases, the syndrome is not inherited within families and manifests itself spontaneously (sporadically).

causes of Turner syndrome

The causes of Turner syndrome are still poorly understood. It is not known exactly what factors affect the likelihood of having a child with this disorder. It has been hypothesized that the risk of developing the syndrome is influenced by maternal exposure to high doses of ionizing radiation (more than 1 mSv per year). Large-scale studies to identify the causes of Turner syndrome and other chromosomal abnormalities were conducted in the 70s of last century. The study was conducted in the Indian state of Kerala, where the radiation background is significantly higher than normal due to the presence in the soil of thorium and its decay products, and in the Chinese province of Guangdong, where the annual equivalent dose is 6, 4 mSv. The results showed that increased doses of ionizing radiation increase the risk of giving birth to children with Down syndrome and cat cry syndrome. However, there was no increase in the incidence of Turner syndrome. To date, many sources suggest that ionizing radiation affects the risk of pathology, but there are no statistics to support this.

Prenatal diagnosis

It is no secret that modern diagnostic methods can detect most genetic abnormalities of the fetus long before birth. One such procedure, non-invasive prenatal testing (screening of extracellular DNA of the fetus in the mother's blood), can be performed from the end of the first trimester of pregnancy.

The advantage of this procedure is that it is completely safe for mother and fetus. In addition to Turner syndrome, extracellular DNA screening reveals aneuploidies such as Patau syndrome (chromosome trisomy 13), Edwards syndrome (chromosome 18), Down syndrome (chromosome 21 trisomy), and trisomy X chromosome.

The syndrome can be detected by amniocentesis or chorionic villus sampling. Both of these procedures are invasive and have contraindications. Their advantages include high accuracy of the obtained result.

Diagnosis in children and adolescents

The presence of Turner syndrome is not always detected before birth. Many women who have a normal pregnancy do not consider it necessary to resort to prenatal diagnosis of genetic abnormalities of the fetus, some refuse it because of contraindications or fear of side effects. In some cases, Turner syndrome in children can be diagnosed immediately after birth, while mild forms of the disease often go unnoticed by specialists and parents of the child until adolescence. It happens that the first three or four years of life the child develops normally. After that, growth slows sharply, there is a noticeable lag behind peers in physical development. In primary school, there are problems with learning due to inability to concentrate. Children with Turner syndrome find it especially difficult to learn sciences that require high concentration and spatial thinking.

By the end of puberty, girls with this genetic abnormality are much lower than their parents (average height of women with Ulrich-Turner syndrome 145 cm), noticeable skeletal abnormalities and other symptoms of pathology. To make sure that the child has the disease, you should consult a specialist who will offer karyotyping - a diagnostic procedure that can detect chromosomal abnormalities in the genome. This procedure is completely safe, painless and has no contraindications. During karyotyping, the researcher analyzes several cubes of venous blood and examines the mitotic cycle of leukocytes isolated from there.

Treatment

At present, there are no procedures or drugs that have allowed the treatment of Turner syndrome. It is possible that in the future, gene therapy will restore the lost X chromosome during embryogenesis, but so far such procedures remain out of the question. Treatment of Turner syndrome remains symptomatic. For the correction of short stature are prescribed hormonal drugs containing somatotropin, which are taken before and during puberty. Estrogen replacement therapy has been used for over seventy years for the normal development of patients with secondary sexual characteristics, it is prescribed at the age of 12-14 years. To maintain a normal balance of hormones in the body, most women need to take estrogen and progesterone before menopause. The giandliverconsultants provide the best liver consultants in USA.

Estrogen is also key to maintaining bone integrity and the normal functioning of body tissues. Women with Turner syndrome without estrogen are at increased risk for osteoporosis and heart disease.

With hypothyroidism, patients are prescribed thyroid hormones.

If patients have diabetes, they need to constantly monitor their blood insulin levels and follow a diet.

If a woman with Ulrich-Turner syndrome has a horseshoe kidney or urinary tract defects, consult a nephrologist and urologist.

The prognosis, as with any genetic pathology, depends on the severity of symptoms. Many women who have undergone hormone therapy live full lives. They have a normal level of intelligence and ability to learn.

Almost all patients with Turner syndrome are unable to have children. Medicine is aware of cases where such women could become pregnant on their own, but this is very rare. Most patients solve this problem with artificial insemination.

It should be remembered that women with Turner syndrome have an increased risk of complications during pregnancy. They need constant monitoring by a gynecologist and therapist.

Of course, the fate of those diagnosed with "Turner syndrome" is not easy. A photo of a young woman suffering from this disease is presented below.

prevalence

Ulrich-Turner syndrome can be called a rare disease. Its frequency varies from 1: 2000 to 1: 5000 in newborn girls, and given the fact that most pregnancies with this syndrome end in miscarriage or miscarriage, we can say that the incidence of the disease is much higher.

History of the discovery

The first to describe this disease were Russian endocrinologist Nikolai in 1925 and American endocrinologist Henry Turner in 1938. In 1930, he described a clinical case in which an 8-year-old patient had no secondary sexual characteristics, noted short stature, (underdevelopment of the upper jaw).