Professor Ami AmitGynecologist
Turner syndrome is a chromosomal pathology characterized by the absence of a second X chromosome in cells. Israeli specialists in medical genetics are proficient in all modern protocols for diagnosing and addressing the manifestations of this condition. Endocrinologists provide patients with comprehensive hormone replacement therapy, allowing them to maintain a good quality of life. Pediatric orthopedists and other related specialists develop a comprehensive therapy aimed at improving overall condition, harmonizing body proportions, and normalizing muscle tone.
How treatment of Turner syndrome is conducted in Israel
First and foremost, hormone replacement therapy is selected for the patient. Anabolic hormones are used for harmonious weight gain, and growth hormone is prescribed to normalize bone growth and eliminate limb disproportion. From adolescence, girls are prescribed estrogen replacement therapy (treatment with female sex hormones). If the patient has conditions requiring surgical correction (heart defects, bone or spinal deformities) – surgical treatment is performed using minimally invasive techniques.
Prenatal diagnosis of the syndrome in Israel
There are screening tests that allow assessing the risk of carrying a fetus with Turner syndrome based on the analysis of the concentration of plasma protein A and beta-subunit of chorionic hormone in the woman's blood. Adjusting for age, the relative risk is calculated, and if it exceeds a certain age parameter, a biopsy of fetal tissues is performed. At 8-12 weeks – chorionic biopsy, 14-18 weeks – amniocentesis, after 20 weeks – cordocentesis. Based on karyotyping – the creation of a chromosomal map, a decision is made regarding medical abortion to prevent the birth of a sick child.Diagnostic procedures
- Amniocentesis: prenatal diagnosis in Israel