ESPE Abstracts

Brief summary: This case series of three patients with Bartter syndrome (BS) type 3 treated in Sao Paulo and Santarem, Brazil is presented to highlight the difficulties of clinical management and diagnosis. BS is an inherited disorder characterized by impaired sodium chloride reabsorption in the cortical and medullary thick ascending limbs of the loop of Henle and secondary hypokalemic alkalosis. In Brazil, genetic testing for this disease is not common. Howev...

Introduction: We previously reported that miglitol, an alpha-glucosidase inhibitor (α-GI), increases energy expenditure by enhancing β3-adrenergic signaling of brown adipose tissue (BAT) and reduces obesity in dietary-induced obese mice (S Sugimoto et al, at the 9th joint meeting of Pediatric Endocrinology, 2013) (Nutrition & Metabolism). However, this report did not describe the mechanism by which miglitol enhances β3-adrenergic signaling....

Introduction: The Sonic hedgehog (SHH) signaling pathway plays a crucial role in development of the forebrain and pituitary. Mutations in SHH signaling related genes are well known to be the cause of Holoprosencephaly (HPE), which results from developmental field defect or impaired midline cleavage of the embryonic forebrain, and is frequently associated with hypopituitarism. This study aimed to define the prevalence of congenital hypopituitarism (CH) in terms...

Background: GLI2 is a transcription factor in Sonic Hedgehog signaling and implicated in ventral forebrain and pituitary development. GLI2 mutations were reported not only in patients with holoprosencephaly but also in patients with pituitary hormone deficiencies without holoprosencephaly. Other phenotypes of GLI2 mutations are midline facial defects, cleft hands and feet, and polydactyly. We report two patients with combined pituitary hormone defici...

Background: Most infants with persistent hyperinsulinaemic hypoglycaemia (PHH) are born large for gestational age (LGA) due to excessive anabolic effect of prenatal hyperinsulinism. However, other auxological characteristics than weight in infants with PHH have not been described well.Objective: The objective of this investigation was to characterize anthropometric parameters at birth (weight, length, and head circumference) in PHH compared with those in...

Background, aims and objectives: We hypothesized that classical brown adipose tissue (cBAT) could play a crucial role in the anti-obesity effects of erythropoietin (EPO). Our study highlights the mechanism in which EPO treatments could upregulate energy expenditure and improve glucose homeostasis through cBAT in obese mice fed with a high-fat diet (HFD).Method: C57BL/6J mice had been fed with HFD since the age of 4 weeks (HFD mice). We administered recom...

Background and Purpose: Neonatal diabetes mellitus (NDM) is characterized by severe hyperglycaemia and is usually diagnosed in the first six months of life. Genetic diagnosis helps distinguish among its different causes and between transient and permanent forms, and the diagnosis has repercussions for the therapeutic approach and follow-up. We present three cases of NDM with different genetic abnormalities and different clinical courses....