ESPE Abstracts

Background: DAVID syndrome (deficit in anterior pituitary function and variable immune deficiency) (J Clin Endocrinol Metab 97 E121, 2012) can be caused by NFKB2 mutations (Am J Hum Genet 93 13, 2013). All patients have an orthotopic posterior pituitary (PP) and most only ACTH deficiency.Objective and Hypothesis: To describe a girl with common variable immunodeficiency (CVID), ectopic PP (EPP) ...

Background: Children born small for gestational age (SGA) are at increased risk of coronary heart disease and type 2 diabetes in adulthood, due to reprogramming of endocrine and metabolic functions. Dysregulation of specific miRNAs in response to genetic and environmental factors contribute to aberrant gene expression patterns underlying metabolic dysfunction.Objective and hypotheses: We aimed to identify miRNAs associated with increased risk of obesity ...

Among the many complications of type 1 diabetes (T1D), hypoglycemia is an acute concern for children with T1D and their families. Moreover, fear of hypoglycemia is a common barrier to achieving glucose targets. Numerous advances in care have been made since the Diabetes Control and Complications Trial was published in 1993 in which lower HbA1c was associated with increasing risk of severe hypoglycemia. More recent data indicate that lower HbA1c (7% ISPAD target) can be ach...

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 ...

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 ...

Background: Referrals to pediatric endocrine clinics for short stature are common. Height velocity (HV) is an essential component of the evaluation of short stature as growth deceleration often reflects an underlying pediatric endocrine diagnosis (PED). Access to previous measurements facilitates prompt calculation of HV.Objective and hypotheses: To determine availability of previous measurements at time of referral for short stature, to characterize PED...

Context: Optimal levels of 25-OH-Vitamin D (25OHD) for children are unknown. Prevalent population levels of 25OHD are likely to be sub-optimal since sun exposure is reduced in modern living.Objective: To deduce recommended levels of 25OHD by testing, in children, the level at which 25OHD optimally effects calcium, phosphate and parathyroid hormone levels in a population-based data.Design:</...