ESPE Abstracts

Background: Genetic defects in the insulin receptor (INSR) are rare. Precise prevalence is unknown and significant clinical heterogeneity exists. Over 120 allelic variants have been described to date, spread throughout the receptor, and few geographical founder effects have been described. In this case series we identify a novel missense mutation in the tyrosine kinase domain of the INSR in three independently ascertained Irish families.Objective and Hyp...

Background: Decreased bone density using DXA is reported in mixed cohorts of testosterone treated and testosterone naïve men with Klinefelter syndrome (KS). Bone mass and body composition in men with congenital anorchia (CA) have never been previously reported.Objective and hypotheses: Men with KS and CA treated with testosterone from adolescence have normal bone mass and body composition.Method: Whole-body DXA and tibial (66%...

Background: Secondary pseudohypoaldosteronism (PHA) type 1 is an uncommon salt losing condition of infancy caused by transient resistance of the mineralocorticoid receptors (MR) of the renal tubule to aldosterone. This can be secondary to urinary tract infection (UTI), urinary tract malformation (UTM) or obstructive uropathy. Ninety percent of reported cases present before 3 months and nearly all are under 7 months of age.Objective and hypotheses: The co...

Pseudohypoparathyroidism (PHP) is a disease of rare frequency. There are five subtypes with each having different phenotypes and blood laboratory test results, which depend on gene mutation and hereditary styles. Among them, the most common type is PHP Ia which inherits maternal gene mutation and expresses Albright’s hereditary osteodystrophy (AHO) appearance, hypocalcemia, hyperphosphatemia and serum parathyroid hormone elevation. Another type, pseudo-pseudohypoparathyro...

Background: It is critical to understand patient-reported outcomes in pediatric patients enrolled in pediatric weight management (PWM) clinics. Health-related quality of life (HRQoL) is low in children with obesity. Utilizing data from the CANadian Pediatric Weight Management Registry (CANPWR), we examined (1) changes in HRQoL up to 3 years after enrollment in PWM and (2) factors associated with change in HRQoL over time.Methods:...

Background: Vitamin D is a pleiotropic hormone the deficiency of which is related with extraskeletal manifestations such as insulin resistance and cardiovascular risk disease.Objective and hypotheses: To investigate the levels of VitaminD in a sample of children with obesity and to evaluate the relationship between carbohydrate metabolism and metabolic syndrome (MS).Method: In this prospective cross-sectional study, 189 children ag...

Background: Hypocalcemia is a common metabolic disorder in the neonatal period and may involve life-threatening situations. The aim is to analyze the main causes of hypocalcemia and its management.Objective and hypotheses: The aim is to analyze the main causes of hypocalcemia and its management.Method: Retrospective descriptive study by reviewing reports of 75 patients diagnosed of neonatal hypocalcemia (total Ca <7.6 mg/dl and...

Background: 1 000 million people worldwide presenting vitamin D deficiency in children prevalence of vitamin D deficiency in certain regions described up to 80%, especially at high latitudes (above 37). Has been postulated role of vitamin D in the immune system and in clinical variability DM1.Objective and hypotheses: To study the degree of deficit VITD in our population (Location: 42° 51’north latitude 2° 41’west longitude) with DM1 ...

Background: There is high prevalence of Vitamin D deficiency (VDD) in Hashimoto’s thyroiditis (HT) as reported in literature. However, it is uncertain whether VDD is a cause or effect of HT. The effect L-thyroxine replacement on vitamin D levels in children with HT has not been studied.Objective and hypotheses: To study vitamin D level of newly diagnosed children with HT and to observe the change in vitamin D level after L-thyroxine therapy.<p c...

Aim: The aim of this study was to evaluate the effect of different doses of vitamin D supplementation on androgen levels in adolescent girls who were treated with metformin.Method: 45 adolescent girls diagnosed with hyperandrogenism were divided into the 3 different groups according to the treatment scheme. Patients treated with metformin (850 mg / day oral)(n = 15), metformin and vitamin D drops (2,000 IU / day)(<em...