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Turner syndrome in children
مقاله تخصصی

Turner syndrome in children

3 months ago
706 بازدید
Dr. Ali Faraji

Dr. Ali Faraji

تهران

Specialist in children and babies

Turner syndrome in children is a rare genetic disorder with features such as short stature, heart problems and sexual problems. This syndrome usually occurs in girls and requires special care. In this article, we will discuss the signs and symptoms of this disease. What is Turner syndrome? Turner syndrome is a genetic disorder that occurs more often in girls. This disorder is caused by the presence of a false sex chromosome, or a probe, that causes the reduction or absence of one or two sex chromosomes (usually one of the X sex chromosomes). Girls with Turner syndrome may have certain physical and biological characteristics, including short stature, heart defects, problems with bone structure, kidney defects, problems with the production of sex hormones, and thinning hair and excessive light-resistant hair. Social and psychological problems may also exist in people with this syndrome. Turner syndrome is usually diagnosed through genetic testing and medical evaluations. Treatment for these people often includes hormone therapy, which is used to promote growth, regulate hormones, and manage other problems associated with the syndrome. Signs and symptoms of Turner syndrome in children Symptoms of Turner syndrome may include: 1. Short stature: Girls with Turner syndrome may be shorter than their peers. 2. **Heart problems**: Heart disorders such as narrowing of the heart valves or other heart problems may exist in these people. 3. **Problems in bones and joints**: People with Turner syndrome may have problems such as more vulnerability in bones, short neck skull, and problems in joints. 4. **Kidney problems**: Some people may have problems such as renal graft stenosis or frequent urinary infections. 5. **Sexual problems**: The lack of sexual recovery during withdrawal, lack of periods or problems related to fertility may exist in these people. 6. **Dental problems**: They may have extra teeth or smaller and incomplete teeth. 7. **Thinness of hair and excessive hair against light**: People who have this syndrome may have thin and weak hair and have excess hair on their face or other areas of their body that are too sensitive to light. 8. **Social and psychological problems**: Some people may face social and psychological problems, including problems in self-confidence and social relationships. These symptoms may vary from person to person, and for accurate diagnosis and better treatment, it is important that each person undergo a careful medical evaluation with their own characteristics and needs. What are the problems in people with Turner syndrome? TS individuals may have a short neck with a curtained appearance, a short hairline on the back of the neck, and low-set ears. The affected person's hands and feet may be puffy and swollen at birth, and often have soft nails that bend upwards when lifted. All these characteristics are apparently caused by the blockage of the lymphatic system during fetal development. Another characteristic is related to the beauty of the presence of multiple pigment spots in the form of colored spots on the skin. ### Short stature in people with the syndrome Almost all people with Turner syndrome are short. This problem is partly caused by the lack of SHOX gene action on the X chromosome. This special gene is important for longitudinal bone growth. Lack of SHOX gene may also explain some of the skeletal characteristics of Turner syndrome, such as short fingers and toes, abnormal rotation of the wrist and elbow joints. Longitudinal growth is reduced in the fetal state, and height growth during childhood and adolescence is delayed and leads to a height of 143-145 cm (approximately 4 feet and 8 inches). The final adult height in Turner syndrome increases by a few inches if growth hormone (GH) treatment is done almost at the beginning of childhood. However, not all TS individuals respond appropriately to growth hormone. To learn more about children's disease, you can read the articles Urinary tract infection in children and from cause to treatment of convulsions. ### Puberty and reproduction Unknown genes develop on the X chromosome and regulate the function of the ovary. Most people with TS experience the lack of ovarian function in early childhood and therefore do not enter puberty at a normal age. Some teenagers may have some breast growth and experience the onset of menstruation, but the growth of breasts and menstruation do not continue during the following years of adolescence. Few TS women have apparently normal ovarian function with regular menses until their mid-20s before ovarian failure occurs. A few spontaneous pregnancies have also been reported. Girls and women with Turner syndrome should be treated with estrogen and progesterone to maintain their secondary sexual growth and prevent osteoporosis, which usually occurs at menopause. Most women with TS do not have ovaries with normal function that are capable of forming embryos and fertility. However, new reproductive technology may help these women. ### Thyroid syndrome in children Almost one third of people with Turner syndrome have thyroid and usually hypothyroidism. Symptoms of this condition include decreased energy, dry skin, cold intolerance, and poor growth. In most cases, this condition occurs through an immune system attack on the thyroid gland. Although it is not known why thyroid disorders occur with such high frequency in TS, the condition can be treated simply by taking thyroid hormone supplements. Diagnosis and treatment of Turner syndrome To diagnose Turner syndrome, ultrasound during pregnancy can be used to find out some of the symptoms of this disease. Also, chromosomal disorders such as Turner syndrome or Down syndrome can be detected through amniocentesis or chorionic villus sampling during the fetal period. Treatment of Turner syndrome Turner syndrome is a genetic disease for which, like many genetic disorders, there is no direct treatment. After birth, supportive treatments can be used to deal with short stature, sexual development and learning difficulties in people with this disease. But so far there is no solution for the main treatment of this disease.
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