Insights into Turner's syndrome

Abstract

Turner syndrome (TS) is a genetic disorder characterized by the partial or total loss of one of the X chromosomes. The pathophysiology of TS is complex and primarily involves haploinsufficiency of genes located on the X chromosome that escape physiological inactivation. The main clinical features of this syndrome include growth retardation, primary ovarian insufficiency and dysmorphic syndrome. Additionally, TS encompasses a wide range of pathologies, including autoimmune diseases, congenital heart defects, renal malformations, and other conditions. The diagnosis of TS is mainly based on the analysis of blood karyotype. Chromosomal abnormalities found include X monosomy, which represents nearly half of the genetic abnormalities in TS, followed by mosaic forms and less commonly, structural abnormalities of the X chromosome. The main therapeutic goals are to ensure optimal growth, induce puberty, provide hormonal replacement therapy, screen for and treat associated pathologies, aiming to improve the quality of life of patients. Consequently, the management of TS is based on Somatotropin, treatment of hypogonadism and associated comorbidities. Therefore, long-term follow-up and multidisciplinary approach are mandatory.