ESPE Abstracts

Background: Hypoglycaemia due to congenital hyperinsulinism (CHI) is the commonest cause of severe, recurrent hypoglycaemia in childhood. Previous follow up studies have focused on neurodevelopmental status which is noted to be delayed in as many as 48% of cases. There has been less emphasis on other long-term outcomes in patients with CHI. Given the requirement for high volume carbohydrate in most patients, there are concerns regarding the adverse effects on ...

Failure to thrive is a term used to describe inadequate growth or the inability to maintain growth, which usually occurs in early childhood. Case report: female patient, 7 months old, referred to the pediatric clinic of Hospital de Clínicas de Porto Alegre due to a possible syndromic condition. He had no diagnosed comorbidity to date and was using only prophylactic ferrous sulfate and vitamin D. No family history of similar illness. Physical examination showed hypertric...

Objectives: To describe the auditory phenotype and dynamics of hearing thresholds in patients with Turner Syndrome (TS).Patients and Methods: Cross-section study evaluating the hearing thresholds in 246 TS patients (age range 4-44 yrs). Patients were divided into three age groups: Group 1 (79 TS, age range 4.0-12.9 yrs); Group 2 (109 TS, age range 13.0-25.9 yrs,) and Group 3 (66 TS, age range 26.0-44.9 yrs,). Pure tone a...

Triple A syndrome (AAAS) is a rare, incurable, recessive disorder, characterised by achalasia, alacrima, adrenal failure and a neurodegenerative phenotype. The AAAS gene encodes ALADIN, is a nuclear pore complex (NPC) protein necessary for nuclear import of DNA protective molecules, important for redox homeostasis. ALADIN’s role is not fully characterised: its discovery at the centrosome and the endoplasmic reticulum suggests a role outside the NPC. To date, the ...

Liquid chromatography associated with tandem mass spectrometry (LC-MS/MS) is currently considered the gold standard for steroid measurement. The aim of this study was to compare traditional immunoassay and LC-MS/MS methods for androgens measurement before and after human recombinant chorionic gonadotrophin (hrCG) stimulation in children with diagnosis of disorder of sex development (DSD) with 46,XY karyotype and past of normal testosterone secretion. We evaluated 19 patients, ...

Introduction: Short stature is defined as stature less than −2 standars deviations (SD) for a person’s age and sex of the reference population. Short for gestational age children (SGA) represent 20% of all children with short stature. 10% of these can not catch-up and remains their height below −2 SD. Growth hormone (GH) treatment is a recognized therapy for SGA children authorized in Europe at 4 years old. There are studies that support that younger children ...

Background: Besides surgery, radioactive iodine therapy (RAI) is an effective and safe option to treat children with hyperthyroidism from Graves disease (GD) who cannot achieve euthyroidism with antithyroid drugs.Objective and hypotheses: To present the experience of a Portuguese paediatric unit with the use of RAI in children with GD.Method: The authors performed a review of 7 cases of Graves disease of age under 18 years treated ...

Background: Congenital adrenal hyperplasia, one of the most frequent autosome recessive disorders, is caused by defects in steroidogenic enzymes involved in the cortisol biosynthesis. Approximately 95% of cases are caused by a deficiency of the 21-hydroxylase enzyme. Its deficiency leads to androgen excess, consequently, to virilization and rapid somatic growth with accelerated skeletal maturation. Mutations in CYP21A2 are responsible for different forms of 21-hydroxylase defi...

Background: Over the years special screening procedures for preterm and twin babies (re-screening at 2–4 weeks of life) have been adopted by many screening laboratories worldwide. However, no extensive studies have been performed to verify how many co-twins with negative test at first screening (3–5 days) become positive at re-screening, and the utility of a long-term follow-up also in co-twin with negative test at screening and re-screening.Ob...

Background: 25-OH vitamin D levels in newborns depend directly on their mother’s status. In a previous study, 25-OH vitamin D levels were determined in cord blood in a cohort of women after winter months, showing deficient values in 94% of population (mean 25-OH vitamin D value 10.4±6.1 ng/ml). Correlation between low 25-OH vitamin D levels and low sun exposure, dark skin phototype and Indo-Pakistani ethnicity were observed.Objective and hypoth...