ESPE Abstracts

Introduction: Mutations in the thyroid hormone (TH) transporter MCT8 result in MCT8 deficiency, which is characterized by severe intellectual and motor disability and high serum T3 concentrations inducing thyrotoxicity in peripheral tissues. At present, no effective treatment is available, although preclinical studies suggest that the T3 analog Triac is a promising candidate to i) normalize serum T3 levels and thus alleviate the thyrotoxicosis and ii) restore TH signaling in t...

Background: Proteoglycans are abundant and structurally complex bio macromolecules. They reside on the cell surface and are a major component of the extracellular matrix including bone. Defective formation of proteoglycans may case pleiotropic connective tissue syndromes including EDS-like and Larsen syndrome–like phenotypes.Objective and hypotheses: We report on a girl with disproportionate short stature and joint laxity with pes planus and radial ...

The neurodevelopmental consequences of neonatal hypoglycaemia are sparsely studied. We included neonates with blood glucose <1.7 mmol/L, but no severe perinatal risk factors, in a follow-up with blinded Wechsler’s Intelligence Scale for Children-IV (WISC-IV), Movement ABC-2 tests and child behaviour checklist (CBCL). Neurodevelopmental impairment was defined as psychomotor retardation, blindness, epilepsy, cerebral palsy, WISC-IV score <70, or Movement ABC-2 <...

Background: Vitamin D may have cardio-protective properties due to its biological actions. In children, observational studies linking actual vitamin D level and blood pressure have yielded conflicting results. Whether early life vitamin D exposure may elicit a programming effect on later systolic blood pressure (SBP) and diastolic blood pressure (DBP) needs further investigation.Objective and hypotheses: We investigated whether higher levels of cord 25-h...

Background: Vitamin D deficiency in children clinically manifests as rickets causing growth impairment and bowing of the long bones, potentially increasing the ratio between crown-rump length and length (CRL:L) or sitting height and height (SH:H).Objective and hypotheses: We investigated whether CRL:L in 19-months-olds and SH:H in 36-months-olds were lower with higher cord 25hydroxyvitamin D (25OHD).Method: Participants were includ...

Background: Congenital hyperinsulinism (CHI) is a rare condition characterized by unregulated secretion of insulin from pancreatic islet β cells. The primary treatment goal is to obtain normoglycemia, since hypoglycemia in the neonatal period can have severe impact on cerebral development.Objective and hypotheses: To assess the cerebral function in children with CHI at follow up.Method: From an international cohort, 40 childre...

Background: Obesity in childhood is defined by age- and sex-specific BMI cut-off values. However, BMI does not disclose the distribution of fat mass. Increased abdominal adipose tissue is associated with a higher risk of cardio-metabolic disease in adulthood. Thus, precise measurements of abdominal adipose tissue in children may enable early prevention of disease.Objective and hypotheses: To validate measurements of abdominal adipose tissue by anthropome...