[Genetic advances and multidisciplinary patient care in Turner syndrome]

Turner syndrome is a complex disease with a female phenotype, which is caused by the complete or partial absence of one of the X chromosomes. It affects approximately 1 out of every 2000 to 2500 live female birth. The latest diagnostic criteria, a more precise knowledge of the genetic background, the development of therapeutic options and increasingly detailed care protocols help to recognize the disease as early as possible and greatly improve the quality of life of patients. The most important element of patient care at all stages of life is multidisciplinary care, as patients with Turner syndrome can be expected to manifest different symptoms or diseases at different stages of life, but even at the same time. Turner syndrome is associated with a wide range of phenotypic variations. The most characteristic features are short stature, late or delayed puberty caused by ovarian dysgenesis. Due to early ovarian insufficiency, the chance of spontaneous pregnancy is 4.8–7.6%. Other common anomalies are congenital heart and kidney malformations, hypertension, diverse range of eye and ear disorders, thyroid dysfunction, orthopaedic issues, neurocognitive deficit, osteoporosis and autoimmune diseases. The aim of our summary is to provide assistance in the early recognition of patients with Turner syndrome and to present the latest recommendations for patient care. Orv Hetil. 2024; 165(11): 416–423.