Endocrine Abstracts

Congenital Hypothyroidism (CH) is the most common congenital endocrine disease and avoidable cause of severe mental retardation. The CH pathogenesis may include the contribution of genetic and environmental factors. However, causal mutations have been found in a minority of cases. Moreover, the elevated frequency of discordance for CH phenotype between monozygotic (MZ) twins suggests the involvement of non-Mendelian mechanisms. Aim of this study was to investigate the role of ...

Objective: decreased survival and higher cardiovascular risk have been reported in a UK cohort of RTHβ patients, but there is no evidence from other countries.Methods: retrospective study of an Italian cohort of RTHβ patients, carrying heterozygous pathogenic variants in the THRB gene and diagnosed in the period between 1984 and 2023. We collected records at diagnosis of 284 cases, whereas longitudinal data were available in 249 RTH&#9...

Objectives: Differentiated thyroid carcinoma (DTC) in pediatric patients has peculiar clinical, pathological, and molecular characteristics, making its management different from the adult patients. Our study aimed to evaluate the outcome and predictive factors for persistent disease in a large cohort of pediatric patients.Methods: We performed a multicentric Italian study, enrolling patients aged ≤18 years old, diagnosed with a DTC, since January 2...