Turner's syndrome What we need to know

Turner's syndrome is a hereditary disease accompanied by severe hypoplasia of the ovaries and internal genital organs, and sometimes hypertrophy of the clitoris. Turner syndrome occurs only in females when an individual has one sex X chromosome instead of two. At the same time, the total number of chromosomes in most somatic cells is reduced to 45.

This chromosomal change happens by chance, when the child is conceived in the womb, and there is no other provoking factor (for example, the age of the parents).

Signs and symptoms

Ultrasound examination during pregnancy can show:

• accumulation of fluid in the back of the neck or other pathological accumulation of fluid;
• heart pathologies;
• Abnormal kidneys.

At birth or infancy

In some girls, the physical characteristics and growth retardation of the syndrome become apparent early. Signs and symptoms of Turner syndrome at birth and in infancy include:

• wide neck
• small lower jaw;
• high narrow sasa;
• deformity of the ears;
• lowering the hairline at the back of the head;
• Broad chest with a long distance between the breasts;
• short fingers
• narrow and inverted nails;
• Swelling of hands and feet, especially at birth;
• lower than normal height;
• growth retardation.

Turner syndrome in adolescents and women

In some cases, the signs of Turner syndrome may not be noticeable at first. The symptoms expressed in adolescent girls and middle-aged women are:

• Growth retardation;
• Stagnation, which is manifested by a height of about 20 cm less than expected;
• learning disorders, especially in spatial and mathematical issues;
• Difficulty being in social situations, such as difficulty perceiving other people's reactions and emotions;
• Ovarian underdevelopment in adolescence;
• Premature termination of the menstrual cycle, which is not related to pregnancy;
• Most women with Turner syndrome cannot have children without treatment.

Turner syndrome is often associated with other health problems, including:

• Heart murmur – a sound produced by the turbulent flow of blood in or near the heart;
• Kidney and urinary tract problems – this can increase the risk of developing urinary tract infections (UTIs) and high blood pressure;
• Hypothyroidism;
• high blood pressure (hypertension);
• Weak bones (osteoporosis) – this can develop in adulthood if estrogen is not adequately replaced by HRT;
• scoliosis;
• diabetes;
• weight gain (obesity);
• lymphedema.

Diagnosis

Lymphedema is a condition that causes swelling of the body's tissues, which can have a major impact on babies with Turner syndrome in the prenatal period. Lymphedema can be detected during an ultrasound scan. Turner syndrome is sometimes diagnosed at birth as a result of heart problems, kidney problems, or lymphedema.

There are two main types of tests available to prevent fetal syndromes during pregnancy (prenatal period): screening tests and diagnostic tests. Screening and diagnostic tests determine whether a fetus has a low or high chance of developing various syndromes. If the screening tests show that you have a high risk of having a baby with Turner syndrome, it is recommended that you also have a diagnostic test to determine whether the fetus has the genetic disorder.

1. Screening Tests – A prenatal screening test can determine if your baby is more or less likely to have birth defects, many of which are genetic disorders. These tests include blood tests, specific ultrasounds, and prenatal cell-free DNA screening.

2. Diagnostic tests – after the screening test, the final answer is given by the diagnostic test, which checks the genetic material of the fetus and therefore can also find out whether the fetus has a genetic disorder. Invasive and non-invasive prenatal diagnostic tests ((NIPT) Verasity, Veragen) are the only, safe and effective way to confirm the diagnostics. Be aware that some diagnostic tests, such as chorionic villus sampling and amniocentesis, carry a small risk of miscarriage.

Learn more about prenatal diagnostics → (https://synevo.ge/prenatal-screening/)

solution

There is no complete cure for Turner syndrome, but there are solutions to alleviate the problems caused by it and prevent some diseases. For girls with the syndrome, speech and language therapies, as well as psychological support, are effective in order to easily socialize and overcome communication problems. Physiotherapy courses are effective.

source

1. https://medicalcity.ge/?p=4081

2. https://www.nhs.uk/conditions/turner-syndrome/diagnostics/

For prenatal screening of Turner's syndrome, "Synevo" laboratory offers the following tests:

Alexander Tsintsabadze