ESPE Abstracts

Background: Short stature is the commonest problem encountered in endocrine clinics. Accuracy in opportunistic measurements is helpful in guiding subsequent management regarding medication doses including growth hormone treatment. Our study aimed to assess the prevalence and factors affecting inaccurate height measurements in different non-Endo clinic visits in our tertiary institute.Methods: A retrospective cohort study...

Background: Achondroplasia, the most prevalent skeletal dysplasia in children, is a multisystemic disease resulting from a common mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. This mutation disrupts endochondral ossification, leading to disproportionate short stature. Historically, management has been primarily supportive due to the absence of targeted therapies. However, recent advancements have led to clinical trials for potential treatme...

Introduction: Puberty has a significant contribution to near final height and significant weight gaining in adolescents. Therefore, it is crucial to understand the normal growth variations in the onset and tempo of puberty in a specific population. In this study, we aim ed to provide normative data on weight and height in saudi adolescents.Methods: A nationwide population-based “Jeeluna = our adolescents’ pop...

Introduction: Congenital Adrenal Hyperplasia (CAH) encompasses a spectrum of genetic disorders resulting from enzyme deficiencies that impair adrenal steroidogenesis. The most common forms are due to 21-hydroxylase and 11-beta-hydroxylase deficiencies, each presenting with distinct clinical and hormonal profiles.Aim: This study aims to compare the clinical presentations and laboratory findings in Egyptian pediatric patie...

Background: Congenital Adrenal Hyperplasia (CAH) is characterized by various enzyme deficiencies, notably 11-Beta-Hydroxylase Deficiency (11OHD) and 21-Hydroxylase Deficiency (21OHD), each affecting growth and hormonal levels differently. This study aim ed to compare the anthropometric and hormonal profiles of pediatric patients affected by these two conditions.Methods: The clinical records of pediatric patients diagnose...

Background: Proteins encoded by LEP, LEPR and MC4R genes are principally involved in driving the leptin-melanocortin pathway. Mutations in these genes induce a rare and severe form of monogenic obesity but the long-term evolution of these afflictions is unknown. Here, we carried out a clinical investigation on 132 children with LEP, LEPR and MC4R deficiency from Pakistan to evaluate progression of the disease and its impact on co-mor...

Background: Neonatal severe hyperparathyroidism (NSHPT) is a rare disorder caused by inactivating calcium-sensing receptor (CASR) mutation characterized by striking hyperparathyroidism leading to severe hypercalcemia. Heterozygous loss of function in CASR gives rise to a benign variant called familial hypocalciuric hypercalcemia which needs no treatment. We are reporting 3 cases of NSHPT due to inactivating homozygous CASR mutation n...

Background: An underestimated figure of 1,249 children with type 1 diabetes mellitus (T1DM) was diagnosed in Indonesia from 2017 to 2019. In 2021, there were around 0.05 paediatricians per 1,000 children in Indonesia. Only 1.2% (n=54) were pediatric endocrinologists practising in 17 out of 38 provinces populating urban areas in Indonesia. Therefore, Changing Diabetes in Children (CDiC) Indonesia, a public-private partnership, has delivered training fo...

Introduction: The ESPE e-learning web-portal (www.espe-elearning.org) was developed to address gaps in education in pediatric endocrinology and diabetes and was first published online in 2012. Since then, it has been utilized in different settings and applications. Here, we present its utilization in a series of e-learning and e-consultation webinars in collaboration with the Indonesian Pediatric Society (IDAI- Ikatan Dokter Anak Indonesia).<p class="abste...

Background: Advances in the treatment of childhood and adolescence cancer treatment have led to significant increase in survival rate. Current 5-survival rate of childhood cancer is nearly 80%. Hematopoietic stem cell transplant (HSCT) is treatment of choice in many clinical conditions including malignant and non-malignant hematological diseases, solid tumors and immunodeficiency diseases. Children receiving HSCT are prepared with different pre-transplant cond...