ESPE Abstracts

Background: Thyroid hormone resistance (THR) is an autosomal dominant, rare syndrome and result of the reduction sensitivity of target tissues to thyroid hormone. There is usually normal or slightly elevated TSH concentration with increase in serum fT3 and fT4 concentrations. The most common cause of resistance to thyroid hormone (RTH) is heterozygous thyroid hormone β (THR β) gene mutations. THR is defined by Refetoff et al. at 1967. THR mutati...

Background: DNAJC3 is an endoplasmic reticulum (ER) co-chaperone involved in folding/processing of secretory and transmembrane proteins. The defect in the ER co-chaperone proteins impairs adaptive ER responses and leads to apoptosis, impairment of organ function with multisystemic involvement. Biallelic mutations in the DNAJC3, described in a limited number of cases cause multiple endocrine dysfunction and neurodegeneration of nervous system.<p cl...

Objective: Histones have important structural and regulatory roles mediating the dynamic packaging of DNA. The dysregulation of histone modification leads to overgrowth syndromes, such as Sotos and Weaver syndrome. Recently heterozygous variants in HIST1H1E, which encodes linker histone H 1.4 has been associated with Rahman Syndrome, which is characterized by a very rare complex phenotype consisting of overgrowth, dysmorphism, and intellectual disabil...