IMPE Abstracts

Background: Current safety of Recombinant human growth hormone (rhGH) treatment arises mainly from postmarketing surveillance. Headache is a relatively frequent symptom in children under rhGH. Secondary intracranial hypertension (SIH), is an adverse effect (AE), usually occurring within the first 12 weeks of treatment associated to headaches. Permanent visual defects are the most feared complication. Scarce information exists regarding incidence and natural hi...

Background: Persistent hypoglycemia in pediatric patients is the clinical manifestation of different hormonal and metabolic disorders and expose them to a high risk of brain damage. Appropriate management should include staggered strategy to achieve the underlying etiology.Aim: To describe an infant with recurrent hypoglycemia due to Stage 4 Neuroblastoma (4SNB) behaving as an “IGF2-OMA”.<p class="abstext...

Human growth is highly dependent on the GH-IGF-I axis. GH binding to GH receptor activates janus kinase 2 (JAK2)-signal transducer and activator of transcription 5b (STAT5b) pathway which stimulates transcription of IGF1, IGFBP3, and IGFALS. Although STAT5b deficiency was established as an autosomal recessive disorder, heterozygous dominant-negative STAT5B variants were reported in patients with less severe growth deficit and milder immune dysfunction. Our aim was to develop a...

Introduction: Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome caused by genetic or epigenetic defects within the chromosome 11p15.5 region. BWS growth pattern with accelerated growth during infancy is widely known, and whenever there is a change in the expected growth, further investigation is warranted.Objective: To describe a patient with BWS and growth failure.Case report:</s...