ESPE Abstracts

Glucocorticoids (cortisol in humans, corticosterone in rodents) are critical regulators of energy metabolism and immunity. Their secretion by the adrenal gland follows a circadian pattern, with serum concentrations peaking before the active phase (day in humans, night in rodents). Synthetic glucocorticoids are the most potent anti-inflammatory agents known, and are widely used therapeutically, with >1% of the UK population holding a prescription long-term. However, frequen...

Background: The arrangement of beta cells within islets of Langerhans produces a gain-of-function in insulin release through the generation of rhythmic activity patterns. A privileged role for individual beta cells in orchestrating these responses has long-been suspected, but not directly examined.Objective and hypotheses: Identify and characterize a rare subpopulation of beta cells tasked with pacemaking insulin release.Method: Op...

Conventional treatment for obesity, founded on the First Law of Thermodynamics, assumes that all calories are alike, and that to lose weight one must ultimately “eat less and move more.” However, this prescription rarely succeeds over the long term. Calorie restriction elicits predictable biological responses – including increased hunger and reduced energy expenditure – that oppose ongoing weight loss. Indeed, the prevailing Energy Balance Model offers ...

Resistance to thyroid hormone mediated by defective TRβ (RTHβ) or TRα(RTHα).Separate genes (THRA, THRB) undergo alternate splicing, generating nuclear receptors (TRα1, TRβ1, TRβ2) with distinct tissue distributions, which mediate thyroid hormone action; the function of a non-hormone binding protein (α 2), derived from the THRA locus, is unknown.RTHβ a dominantl...

Background: A subset of central obese but normal weight individuals has been identified, who harbor potentially increased risks for development of MS despite a normal BMI.Objective and hypotheses: We try to evaluate metabolic syndrome (MS) components of normal weight central obese adolescents in Korea stratified by waist-to-height ratio (WHR).Method: This is a cross-sectional study. Data were obtained from the Korean National Healt...

Background: Nicotinamide nucleotide transhydrogenase (NNT) gene mutations have been recently shown to cause familial glucocorticoid deficiency (FGD), by decreasing reactive oxygen species (ROS) detoxification in adrenocortical cells. Affected infants present within the first few months with isolated glucocorticoid deficiency.Objective and Hypotheses: To study the genetic etiology of four cases presenting uniquely with neonatal addisonian crisis (both min...

Background: 17 hydroxylase deficiency is a rare form of congenital adrenal hyperplasia resulting from loss-of-function mutations involving the CYP17 gene. It is characterized by decreased production of glucocorticoids and sex steroids and increased synthesis of mineralocorticoid precursors.Objective and hypotheses: We aimed to identify genetic cause of lack of puberty in a girl and the cause of ambiguous genitalia in her sibling. Fourteen-year-o...

Introduction: There is no valid evidenced-based recommendation for the optimum basal insulin dose in type-1 diabetes mellitus when supplied either by continuous subcutaneous insulin infusion (CSII) or multiple daily injections (MDI). We studied this previously by evaluating the dose associated with successful fasting. Another way of looking at this is by evaluating the association between basal insulin dose and HbA1c. To this end we performed a retrospective study of 89 childr...

Background: Distribution of TSH levels is not normal. This is due to physiological changes that cause temporary increases in TSH during physiological events. Several methods are used to normalize the distribution when defining normal limits.Objective and hypotheses: To compare the normal limits defined by three normalization methods vs non-normalized distribution based on a large cohort with no known thyroidal illness.Method: Data ...

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