ESPE Abstracts

Background: Thyroid dysfunction is a common condition in children and has been associated with metabolic syndrome, hypertension, cardiovascular disease and mortality. Due to the obesity epidemic in paediatric population exists a higher prevalence of nonalcoholic fatty liver disease (NAFLD), a condition associated with insulin resistance and metabolic syndrome. In adults it has been observed that elevated TSH, even within the normal range, are positively correlated with increas...

Background: Iodine concentrations in Chilean schoolchildren are the highest in South America. This may be related to excessive sodium intake, which is associated with hypertension. However, iodine decreases blood pressure (BP), which would be a cardiovascular protective factor.Objective and hypotheses: The objective of this study is to evaluate the effects of iodine on BP and cardiovascular risk factors, despite salt intake.Method:...

Introduction: Management of pediatric patients with short stature and poor adult height prognosis it’s challenging and effectiveness of treatment with growth-promoting agents is controversial when linear growth is ending. Aromatase inhibitors (AI) have become a therapeutic option as they promote slowdown of bone maturation and increase final height, but yet is a non-approved indication.Aim: To conduct a survey abou...

Neonatal diabetes (ND) occurs in 1/100,000-150,000 newborns with hyperglycemia in the first six months of life, requiring insulin treatment for at least two weeks, with no autoimmune basis. Two forms are described, transitory (TND) and permanent (PND). In 50% cases of TND, remission presents within the first year of life, only to relapse later before puberty in 50% of cases.CASE 1: Newborn with sustained hyperglycemia since the third day of life, requiri...

The SRD5A2 gene (MIM607306) codes for the type 2 5α-reductase enzyme that catalyzes the conversion of testosterone to its active metabolite, dihydrotestosterone (DHT), essential for the development of the male external genitalia. Pathogenic variants in homozygosis or compound heterozygosis may be responsible for a 46XY Disorder of Sex Development.Case: A 5-year-old girl who was referred to us after the mother noticed lumps on both ...

Background: Premature pubarche refers to the appearance of pubic hair without other signs of puberty or virilization before 8 years in girls and 9 years in boys. The etiology of premature pubarche is not known. It has been suggested that an early maturation of the zona reticularis of the adrenal cortex is at the basis of premature pubarche, leading to an increase of adrenal androgens to levels that are normally seen in early puberty. In alternative, in children with normal and...

Objective: To evaluate growth in patients with classical CAH.Patients and methods: Retrospective, longitudinal and multicentric study of patients with classical CAH due to 21-hydroxylase deficiency who had achieved adult height(AH).Excluded: boys with simple virilising forms(SV)>1-year at diagnosis. Normative Control Group:Millennials Longitudinal Growth Study(2018). According t...

Introduction: CFTR-modulating therapy aims to restore CFTR function. It improves lung function and quality of life in CF patients however, its effects on glucose metabolism are not yet well defined.Methodology: Retrospective and longitudinal study.Inclusion criteria: patients with CF genetic diagnosis ≥10 years old on modulator therapy (ivacaftor + lumacaftor or ivacaftor + teza...

Background:Short stature may be due to various pathological conditions or may be idiopathic. SHOX (Short Stature Homeobox on X chromosome) gene is involved in the regulation of skeletal growth and is a main cause of short stature on monogenic basis. The frequency of this condition in children with idiopathic short stature (ISS) was reported to range from 2 to 17%. The phenotypic spectrum is heterogeneous, varying from Léri-Weill dyschondrosteosis (LWD) ...

Introduction: Type 5 monogenic diabetes is an autosomal dominant disease due to a mutation in HNF1beta gene. This gene is expressed predominantly in kidney and pancreas, thus clinical manifestations are characterised by renal abnormalities and diabetes.Objectives: To review the clinical characteristics of patients who were diagnosed with type 5 monogenic diabetes in the Pediatric Endocrinology Unit of a tertiary referral hospital.<p class="a...