ESPE Abstracts

A 12-month-old boy was admitted to the emergency department in Spain for a tonic-clonic seizure. The initial evaluation revealed metabolic acidosis (pH 7,33, bicarbonate 18,5 mEq/L), glycemia 50 mg/dL, sodium 135 mEq/L and potassium 7,3 mEq/L. After treatment for hypoglycemia, he was admitted for investigation. Physical examination was unremarkable. There was no family history of hereditary disorders nor consanguinity. Pregnancy was uneventful and the Portuguese neonatal scree...

Introduction: Complex diseases are defined by the interference of different genetic and environmental factors and the contribution of each factor is often hard to unravel. In this report, we present a case where different complex diseases intertwine.Case report: We report the case of a 12 month old girl who was addressed to the endocrinology department due to hypotonia and short stature. The pregnancy had been uneventful...

Introduction: Type 1 diabetes mellitus (1DM) has well known long term vascular and neuropathic complications. It has also been described a positive effect of good glycemic control on physical growth and pubertal development, achieved with improvement of insulin-therapy.Aim: To evaluate the effect of functional insulin-therapy on final height in children with type 1 diabetes mellitus.Methods: Retrospective analysis of a cohort of po...

Introduction: Hypothyroidism is a frequent endocrinopathy in pediatric age. The most common manifestation in children is growth delay with decreased height velocity. Symptoms can be insidious and, if not identified ant treated, result in short stature.Aim: To evaluate stature catch-up after replacement therapy in children with primary acquired hypothyroidism.Methods: Retrospective study of all children with primary acquired hypothy...

Background: Neonatal diabetes (ND) is a rare condition (1:160.000-260.000 live births) associated with diabetes onset within the first 6 months of life. It can be permanent (PNDM) or transient (TNDM), and several genes can be implicated in both, namely KCNJ11. Clinical phenotypes usually correlate to the causal gene. KCNJ11 mutations are usually associated with PNDM whilst the most frequent cause of TNDM is disordered imprinting in the 6q24 locus.Objecti...

Introduction: Type 1 diabetes mellitus (T1DM) is associated with significantly higher cardiovascular disease mortality compared to the general population, even when glycated hemoglobin (HbA1c) is less than 7.0%. Inadequate body composition may increase the risk.Aim and Methods: To evaluate body composition of a group of pediatric patients with T1DM, from Portuguese Pediatric Endocrinology/Diabetic Clinic, using the bioim...

Introduction: Individuals with ovotesticular disorders of sexual development (OT-DSD) have both seminiferous tubules and ovarian follicles. The combination of gonads could be separated (ovary-testis), unilateral (ovotestis-ovary or ovotestis-testis), or bilateral (ovotestis-ovotestis). The last one is the rarest variant (24.5%). In 60% of cases, the karyotype is 46, XX.Case Report: 15-year-old, monochorionic-monoamniotic...

Introduction: The ABCC8 gene encodes the SUR1 subunit of the ATP-sensitive potassium channel (K-ATP) in pancreatic beta cells, a key pathway in insulin secretion. Mutations in this gene are associated with neonatal diabetes (ND), and congenital hyperinsulinism (CHI).Description: Cases 1 and 2 Two male monozygotic twins, with no significant medical history, developed persistent non acidotic ketotic hyperg...

Introduction: Bardet-Biedl syndrome is a rare autosomal recessive disease, characterized by rod-cone dystrophy, truncal obesity, left foot polydactyly, cognitive impairment, male hypogonadotrophic hypogonadism, female genitourinary malformations, and renal abnormalities. The authors present 3 cases of Bardet-Biedl syndrome diagnosed during pediatric age.Case description: Case1: A 3-year-old girl with a f...

Introduction: Treatment with recombinant growth hormone (rGH) is safe and has greatly improved the approach of children and adolescents with growth hormone deficiency (GHD) and other growth disorders. Some studies show that most of the height gain associated with GH treatment occurs in prepubertal years. The aim of our study was to evaluate the effect of age at start of the treatment on final height in children with isolated or GHD in a Portuguese cohort.<p class="abstext"...