ESPE Abstracts

Resistance to thyroid hormone (RTH) is attributed to mutations in the thyroid receptor beta (RTH-β) gene. The syndrome is characterized by decreased sensitivity of target tissues to thyroid hormone (TH) action, leading to elevated TH levels, accompanied by normal or high thyroid-stimulating hormone (TSH) values, with variable clinical manifestations such as goiter, which is the most common finding, reported in 66–95% of cases and delayed growth and bone maturation, ...

Introduction: Primary ovarian Insufficiency (POI) occurring in youth is a devastating condition. POI is characterized by at least 4 months of disordered menses in association with menopausal follicle stimulating hormone (FSH) levels. The most common causes of POI in adolescence are iatrogenic and chromosomal abnormalities. Data are scarce regarding the incidence of POI in adolescents.Objectives: We aimed to estimate the incidence and the distribution of ...

Background: Maturity Onset Diabetes of the Young (MODY) is a heterogeneous group of disorders characterized by pancreatic beta-cell dysfunction, and usually referred to monogenic forms of diabetes mellitus to distinguish them from the more common type 1 (T1D) or type 2 diabetes (T2D). Fourteen different MODY genetic subtypes have been identified so far. Making a definite diagnosis is very challenging because of overlapping clinical phenotypes between diabetes subtypes. Neverth...