ESPE Abstracts

Background: The calcium-sensing receptor (CaSR) regulates calcium metabolism by modulating PTH secretion, as well as by direct effect on osteoblasts and osteoclasts, balancing bone formation and resorption. Loss-of-function heterozygous mutations on CASR gene can lead to Familial Hypocalciuric Hypercalcemia (FHH; OMIM #145980), a benign autosomal dominant condition of undefined incidence. Dysplasia Epiphysealis Hemimelica (DEH; OMIM #127800) is a rare...

Neonatal diabetes is characterised by hyperglycaemia in the first 6 months of life. Transient neonatal diabetes (TND) is differentiated from permanent neonatal diabetes by its remission in infancy/early childhood, with possible relapse during adolescence in 50% of the cases. Incidence of neonatal diabetes is thought to range from 1:90,000 to 1:160,000. A gene mutation affecting pancreatic beta cells synthesis/secretion of insulin is present in more than 80% of the cases. Overe...

Background: Diabetics have an increased risk of cardiovascular disease. In young adults with type 1 diabetes mellitus (T1DM), cardiovascular events are more often the cause of premature death than nephropathy. In pediatric T1DM population, 35% have 2 or more cardiovascular risk factors (cvRF).Objective and hypotheses: This study aimed to determine the prevalence of traditional cvRF in children and adolescents with T1DM, and their association with the deg...

Background: Type 1 diabetes is one of the most common chronic disease in pediatric age. The incidence is increasing worldwide, with significant variations between countries. In Portugal, the prevalence in pediatric age is about 0.16%.Objective and hypotheses: This study aims to characterize a pediatric population with type 1 diabetes and to identify factors influencing the metabolic control.Method: Retrospective analysis of childre...

Cause: The Colombian Society of Urology published in May 1993; A Modern Approach to Sexual Ambiguity Syndromes which discuses sexual differentiation and sexual disorders associated with sexual development to determine a binary gender with surgical reconstruction.Objective: Gather the members of ACEP (Colombian Association for Pediatric Endocrinology) to clarify, update and create an approach of human sexuality from a biosociocultural pe...

Introduction: Widespread availability of genetic testing has dramatically impacted clinical practice in some developed countries, changing the current perspectives of preventive medicine and sometimes raising more questions than answers and creating research opportunities.Case report: We report the case of a 6-year-old boy with familial history of neuropathy who was first addressed to the Neurology Department due to a de...

The Ovotesticular Disorder of Sexual Development (OT DSD) is a rare condition characterized by histologic demonstration of both ovarian and testicular tissue in the same individual. Descriptions in literature usually have small samples and do not include patient evolution data. The aim of this study is to describe clinical, biochemical and histological findings, as well as long-term outcomes (including onset and progression of puberty) in patients with OT DSD, accompanied betw...

Background: Diabetic ketoacidosis (DKA) is the most serious acute complication of type 1 Diabetes mellitus (T1DM). It is important to know the factors associated with the development of DKA and elaborate preventive strategies to reduce their prevalence.Objective and hypotheses: To identify DKA predictive risk factors in the initial presentation of T1DM in children and adolescents.Method: We conducted a retrospective study, by analy...

Introduction: Perrault syndrome is a rare autosomal recessive (AR) disorder (<1:1.000.000). Mutations in several genes, including HSD17B4, HARS2, CLPP, LARS2, TWNK, and ERAL1 have been associated with it, reflecting the genetic and clinical heterogeneity of this condition. It is characterized by bilateral mild to severe sensorineural hearing loss (SNHL) in both sexes and gonadal dysgenesis in 46,XX karyotype females. Ovarian dysfunction ranges from underdev...

Background: 16p11.2 microdeletion is most common chromosomal anomaly associated with syndromic obesity. The presence of a large number of flanking segmental duplications/low-copy repeat sequences with a high degree of sequence identity in the short arm of chromosome 16 (16p) leads to recurrent deletions and duplications as a consequence of non-allelic homologous recombination. A recurrent 600kb microdeletion is one of the most frequent genomic imbalances in 16...