ESPE Abstracts

Background: SET domain-containing 5 (SETD5) is a member of the protein lysine-methyltransferase family that regulates gene expression. SETD5 gene mutations cause disorders of the epigenetic machinery which determinate phenotypic overlap characterized by several abnormalities. Recently, SEDT5 gene variants have been described in patients with KBG and Cornelia de Lange syndromes. Pathogenic variants of SETD5 gene are primarily associated with intellectual delay ...

Background: Management of subclinical hypothyroidism (SH) in infancy is still controversial. According to the European Guidelines for Congenital Hypothyroidism (CH), in case of TSH levels between 6 and 20 µUI/ml, both levothyroxine (L-T4) therapy and a wait-and-see approach can be considered.Aim: to describe the evolution of SH diagnosed in newborns recalled by neonatal screening (TSH values ≥7µUI/ml)....