ESPE Abstracts

Introduction: Pituitary gigantism patients are characterized by male predominance and large tumors that are difficult to control. In most cases, history, physical examination, and adjunctive biochemical, imaging, and/or molecular genetic testing will ultimately reveal the diagnosis.Methods: In this single-center study, demographic, clinical, endocrinological data of patients <19 years old who were followed up with the...

Introduction: Central adrenal insufficiency due to isolated adrenocorticotropic hormone (ACTH) deficiency is rare. The etiology often involves homozygous or compound heterozygous mutations in genes related to the production and terminal differentiation of proopiomelanocortin (POMC). POMC deficiency is characterized by central adrenal insufficiency, early-onset obesity, red hair, and reduced skin pigmentation. Here, we present a case diagnosed with POMC deficie...

2Department of Pediatrics, Faculty of Medicine, University of Indonesia, Jakarta, IndonesiaBackground: Short stature is one of the most common findings in Turner syndrome. There are two types of Turner syndrome based on karyotype: classical and mosaic. It is often marked by the body disproportion and dysmorphic profile of the patients. There are still not many data available regarding upper lower body segment ratio (U/L body s...

Children diagnosed with adrenocortical tumors (ACT) have variable prognosis depending on disease presentation at diagnosis. Available therapeutic options render excellent outcome for a subset of patients, but limited improvement in the survival of those diagnosed with non-localized/advanced disease. ACT DNA methylation was recently demonstrated to be a robust and independent prognostic biomarker. Aiming to identify potential therapeutic targets for these children, we compared ...

Introduction: Urinary gonadotrophins measurement is a noninvasive method for evaluation of pubertal development and may have utility in population studies.Objectives: To investigate the utility of urinary gonadotrophins as a noninvasive biomarker of puberty in boys and girls.Methods: School-based adolescent cohort study with two time points for collecting school time urine samples ...

Background: Short stature is one of the most common conditions referred to pediatric endocrinology clinics, and treatment with growth hormone (GH) is useful to improve height velocity and adult height, but response may be variable. Growth hormone therapy is indicated in several conditions in pediatric patients, including growth hormone deficiency (GHD) and children born short for gestational age (SGA). We investigated differences in treatment response in Indon...

Background: Somapacitan is a reversible albumin-binding growth hormone (GH) derivative developed for once-weekly administration in patients with GH deficiency (GHD). It consists of a human GH backbone, similar to endogenous human GH, with one amino acid substitution, attached to an albumin binder via a linker chain.Objective: Absorption, metabolism and excretion (AME) of somapacitan were investigated in a Phase 1 trial (...

Introduction: Of any pituitary dysfunction following brain injury, growth hormone (GH) deficiency (GHD) is the most prevalent. The cut-point for defining GHD has been placed at 7 ng/mL representing optimum test performance. We hypothesised this cut-off may be set too low for genetically taller children with acquired brain injury, notably brain tumours, who demonstrate severe growth failure but repeatedly fail to meet diagnostic thresholds for GH replacement until several centi...

Background: Non-alcoholic fatty liver disease (NAFLD) in obese children is a diagnostic challenge. Presently recommended markers of liver steatosis and risk of progression to fibrosis are: ultrasound imaging (US) and liver aminotransferases (ALT and AST). Owing to the poor sensitivity of these tests, there is a need to search for biomarkers which could indicate early stages of NAFLD. The enhanced liver fibrosis test (ELF) based on the combination of serum concentration of hyal...

Introduction: Salivary androgens represent a non-invasive marker of puberty that may have utility in population studies as well as in the clinical arena.Objectives: To establish normal reference values of salivary androgens using LC-MS/MS and demonstrate the correlations between salivary androgens and pubertal development in boys.Methods: School-based adolescent cohort study with t...