ESPE Abstracts

Background: The fundamental challenge of developing a long-acting growth hormone (LAGH) is to create a more convenient growth hormone (GH) dosing profile while retaining the excellent safety, efficacy, and tolerability of daily GH. With GH receptors on virtually all cells, replacement therapy should achieve the same tissue distribution and effects of daily (and endogenous) GH while maintaining levels of GH and resulting IGF1 within the physiologic range....

Context: There is a limited data from large cohorts regarding pubertal characteristics of children with classical 21-hydroxylase deficiency(21OHD).Objective: To explore the timing and tempo of puberty, and pubertal height gain(PHG) in children with 21OHD-CAH.Design: A multicenter observational, retrospective, longitudinal analysis.Patients: D...

Introduction: Neonatal severe hyperparathyroidism (NSHPT) is a life-threatening disease characterized by hypercalcemia and bone demineralization due to homozygous or compound heterozygous loss-of-function mutations in the calcium-sensing receptor (CaSR) gene. Most cases require emergency parathyroidectomy to be life-saving. Alternative treatments, such as pamidronate and cinacalcet, may be used until surgery is feasible. We present a case of severe hypercalcem...

Introduction: Pituitary adenomas, while rare in the pediatric population, pose significant challenges in terms of diagnosis and treatment despite their generally benign nature. The aimof this study was to elucidate the clinical features, hormonal profiles, and therapeutic interventions employed in the management of prolactinoma in a pediatric cohort.Methods: This study included children <18 years diagnosed with prolac...

Introduction: 46,XX testis/ovotesticular (OT) disorders of sex development (DSD) are rare conditions where gonadal differentiation in 46,XX individuals leads towards testicular development. SRY-negative 46,XX OT-DSD is even rarer compared to other DSDs.Case Presentation: A male patient presented at the age of 3 due to micropenis. Physical examination revealed penile hypospadias and bifid scrotum; phallus length was 2.2 c...

Introduction: Lysineuric protein intolerance (LPI) is a rare autosomal recessive disorder caused by mutations in the SLC7A7 gene, which impairs the intestinal, renal and hepatic absorption of basic amino acids (lysine, arginine, ornithine). Children with LPI may present with protein avoidance, growth retardation, hepatosplenomegaly and osteoporosis. Here, we present two cases diagnosed with LPI due to short stature, with one case involving growth horm...

Introduction: Central Diabetes Insipidus (CDI) is characterized by polyuria, polydipsia and weight loss, resulting from impaired secretion of Antidiuretic Hormone (ADH) in response to serum osmolarity changes. Langerhans Cell Histiocytosis (LCH)is an inflammatory myeloid neoplasm that can affect all organ systems, with central nervous system involvement frequently localized in the posterior pituitary. This report presents a case of pituitary stalk thickening d...

Objective: To evaluate the endocrine function among Egyptian adolescent thalassemic patients.Patients and methods: 54 patients and 28 age-matched normal controls was included. Anthropometric measurements, clinical pubertal assessment were done for all patients. Oral glucose tolerance test (OGTT) was done to all patients and controls with measuring serum insulin level at 0.120 minutes. Insulin sensitivity and release index were calculated. 32 patients had...

Background and aim: Hypothyroidism could be accountable for cardiovascular diseases; hence, necessity of novel biomarkers being capable to predict patient’s status is indispensable. The aim of this study was to appraise alteration of plasma visfatin levels (as a newly discovered proteins) and its association with lipid profiles of hypothyroid patients.Materials and methods: In this cross-sectional, descriptive, and analytical study, 30 children bein...

Introduction: Obesity is the direct cause of a number of immediate problems during childhood. Recently, fat mass was described as a significant negative predictor of serum iron. Hepcidin is a hormone stimulated by an increase in plasma iron levels and iron deposits in tissues, and decreases iron release from macrophages and duodenal enterocytes into the plasma. This protein prevents excessive iron absorption and iron accumulation in tissues. Ferritin is the most commonly deplo...