Endocrine Abstracts

The complete or partial absence of one of the two X chromosomes in a female with characteristic phenotype appearance entitles to Turner syndrome (TS) diagnosis. Monosomy of X chromosome (45,X) is prevalent, however some patients are mosaic and carry one or more additional cell lines, also with Y chromosome. The karyotype variability reflects the wide clinical spectrum of the syndrome. The prevalence of spontaneous puberty is 6% for 45,X and more than 50% for other karyotypes. Short stature affects almost 95% patients and like some of bone malformations results from SHOX haploinsufficiency. According to some studies, TS patients with X isochromosome present higher risk of autoimmune diseases (Hashimoto thyroiditis, celiac disease, inflammatory bowel diseases). In turn, ring X chromosome is associated with higher risk of mental retardation. Most of TS patients require multidisciplinary long-term care. It is worth to emphasize that all medical problems recognized during childhood should be followed-up into adulthood. A coordinated transition process from paediatric to adult health care is the key point to provide appropriate cure concerning hormone replacement therapy, cardiovascular disorders, hearing impairment, autoimmune disorders and bone health.