ESPE Abstracts

Background and objective: The first and rate-limiting step of steroidogenesis is the conversion of cholesterol to pregnanolone which is catalyzed by the P450scc side chain cleavage enzyme (encoded by CYP11A1 gene-SCC). Homozygous recessive mutations of the CYP11A1 gene cause a global steroid hormone deficiency thereby disorders of sexual development in 46, XY individuals with a variable phenotype depending on the mutation characteristics. About 60 cases of SCC...

Introduction: Limited research has focused on the potential connection between thyroid function and attention-deficit/hyperactivity disorder (ADHD), particularly beyond prenatal effects. The few studies addressing children and adolescents have important methodological shortcomings, mainly when seeking to establish causality. To clarify this relationship, a combined epidemiological and genetic approach was adopted to overcome the methodological limitations of e...

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...

Keywords: Sleep-Related Breathing Disorders, recombinant human Growth Hormone treatment, Prader–Willi syndrome, Toddlers.Background: Recombinant human growth hormone (rhGH) therapy is beneficial for children with Prader–Willi syndrome (PWS) in improving short stature and metabolism, but the effect of early rhGH treatment on respiratory and sleep parameters for the PWS children under three years old remains el...

Introduction: Variants in the N-terminal of the Indian-hedgehog gene (IHH) have been associated with Brachydactyly type-A1 (AD) and Acrocapitofemoral dysplasia (AR), only three of which have been functionally studied. However, heterozygous IHH variants, majority classified as variants of unknown significance (VUS) are being increasingly identified, not only in the N-terminal but also in the uncharacterized C-terminal, by NGS, in individuals with short...

Introduction: Widespread changes occur in gene expression in obesity, contributing to metabolic and inflammatory abnormalities. Epigenetic mechanisms play a role in obesity by altering gene expression patterns, and connecting environmental factors to genetic alterations. Histone acetylation is a crucial epigenetic modification that impacts chromatin structure and regulates gene expression. Adipogenesis has been associated with gene-specific increases in histon...