ESPE Abstracts

Background: IGF1R is a keystone of foetal growth regulation by mediating the effects of both IGF-I and IGF-II. Recently the first clinical cohort of patients carrying an IGF1R defect has been reported from which a clinical score was established for diagnosis. Since no external validation of this score is available we assessed it in a large cohort of patients with identified IGF1R defects. Furthermore we aim at setting-up a functional test to ...

Introduction: Resistance to thyroid hormone alpha (RTHα) is characterised by tissue-specific hypothyroidism associated with barely normal thyroid function tests. Clinical features include dysmorphic facies, skeletal dysplasia, growth retardation, constipation, dyspraxia and intellectual deficit. Hormonal assessment often shows decreased/low-normal free thyroxine (fT4) and increased/high-normal free triiodothyronine (fT3) concentrations, resulting in a low...

Background: Studying patients with rare Mendelian diabetes has highlighted molecular mechanisms regulating β-cell pathophysiology. Previous, experimental studies have shown that Class IIa histone deacetylases (HDAC4, 5, 7, and 9) modulate mammalian pancreatic endocrine cell differentiation, function and finally glucose homeostasis.Methods: We performed exome sequencing in one adolescent boy with non-autoimmune di...

Background: Severe primary insulin-growth factor-1 (IGF-1) deficiency (SPIGF1D) is a rare cause of growth retardation. Diagnostic criteria include age- and sex-dependent low basal IGF-1 levels (<2.5th percentile), height ≤ -3SDS, absence of growth hormone deficiency and of any secondary causes of growth failure.Objectives: Description of pubertal onset and growth spurt, data on adult or near-adult-he...