ESPE Abstracts

Background: Calcium homeostasis is primarily regulated by vitamin D. In the absence of the active hormone or a functional receptor, bones are inadequately mineralized, leading to the development of rickets. Vitamin D-dependent rickets type 2 (VDDR2) is a rare autosomal recessive disorder caused by mutations in the vitamin D receptor (VDR) gene.Case Report: A 12-months-old girl was transported to the local hospital ED with a three-minute ...

Introduction: The COVID-19 pandemic adversely impacted general access to healthcare. An association between SARS-CoV-2 infection and new-onset type 1 Diabetes (T1D), a more severe disease at diagnosis and a worsening diabetes control have been described.Aim: To evaluate COVID-19 pandemic’s impact in incidence and presentation of T1D on paediatric patients.Material and Methods:</strong...

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: GH revolutionised treatment of children with GH deficiency, conditioning an improvement in height outcome but also an increase of lean body mass and reduction of fat mass.Objective and hypotheses: The authors aimed to evaluate the growth and weight response in children with GH deficiency and identify potential factors affecting the outcome of these patients.Method: The growth and weight data of 58 children (33 boys and ...

Background: Central precocious puberty is due to premature activation of the hypothalamo–pituitary–ovarian axis. In girls it is idiopathic in up to 95%. Children with clinical rapid progression are treated with prolonged activity GnRH agonist.Objective and hypotheses: Characterise cases of idiopathic central precocious puberty (ICPP) followed at our hospital comparing the group treated with GnRH agonist (group A) with the group not treated (gro...

Background: Melanocortin 4 receptor (MC4R) deficiency is the commonest monogenic form of non-syndromic obesity. MC4R is a seven transmembrane G-protein coupled receptor implicated in central regulation of body weight. The loss-of-function mutations in MC4R gene will contribute to early-onset obesity associated with hyperinsulinemia, hyperphagia and “binge eating”. We aim to determine the prevalence of MC4R variants in a Pediatrics...

Background and Aims: In light of the recent evidence suggesting an increase in idiopathic central precocious puberty (ICPP) cases during the COVID-19 pandemic, this study aimed to assess the proportion of patients referred for precocious puberty (PP) and, within this group, the number of ICPP cases diagnosed before and during the pandemic. Additionally, we compared the demographic, anthropometric, and clinical characteristics of ICPP patients between the two g...

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: 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"...