Summary: Turner syndrome is a genetic syndrome conditioned by the total or partial absence of one of the X chromosomes. It occurs in 1 in 2,000-2,500 born girls. The shortage of genetic material results, among other things, in short stature and disorders of puberty. The clinical course is varied and depends on the type of genetic disorder present. Depending on the amount of DNA loss and, consequently, proteins stored on its matrix, we observe different phenotypic features in patients with Turner syndrome (including in the mechanism of haploinsufficiency).
Turner syndrome develops as a result of the loss of the entire X chromosome or its aberration (total or partial deletion of the long/short arm of the X chromosome, X-chromosome, isochromosome of the long arm of the X chromosome).
For example, patients with a mosaic karyotype (45, X/46, XX), which is the coexistence of cells with an abnormal and correct number of chromosomes in the body, are characterized by a lighter clinical course and the possibility of getting pregnant. Patients with Turner syndrome require multidisciplinary medical care from the perinatal period until the late years of old age.
In 2016, at the International Turner Syndrome Meeting in Cincinnati (USA), representatives of the European Society of Endocrinology and Pediatric Society of Endocrinology developed recommendations for clinical management in the Turner’s team. The paper presents the latest guidelines for caring for patients with Turner syndrome based on the findings of the above-mentioned conference.