ESPE Abstracts

Background: Primary IGF1 deficiency can result from molecular defects in genes encoding for the GHR, IGF1, STAT5b and ALS. Heterozygous, activating mutations in the STAT3 gene have been recently described in children with severe growth failure associated with a spectrum of early-onset autoimmune disease.Case presentation: We report the molecular diagnosis in two unrelated patients with severe growth failure and IGF1 deficiency: P1, a 3.6 year ol...

Background: We have recently reported the molecular diagnosis of two patients with severe growth failure associated with a spectrum of early-onset autoimmune disease and immunodeficiency. Heterozygous de novo mutations, c.1847_1849delAAG (p.E616del) and c.1276T>C (p.C426R), in the STAT3 gene were found. Functional in vitro studies of these variants are presented.Objective and hypotheses: We...

Introduction: Overgrowth syndromes comprise an heterogeneous group of rare disorders characterized by generalized or segmental excessive growth commonly associated with additional features, such as developmental delay, visceromegaly and macrocephaly. They may present with inherent health concerns and, in some instances, an increased risk of tumor development requiring prompt diagnosis and appropriate referral.Objective: ...

Background: Hypogonadotropic hypogonadism (HH) in females is an uncommon and heterogeneous condition. There is little data regarding biochemical profile of gonadotropins to further substantiate the diagnosis.Objective: To evaluate the gonadotropaic secretion profile after GnRH infusion in a female cohort diagnosed with HH.Patients and methods: GnRH iv infusion test (0–120 min) were performed in 17 patients (17.5±2.3 years...

Background: Osteoporosis is a complex disorder, influenced by both environmental and genetic factors. Primary osteoporosis is a rare early onset disorder with high morbidity and mortality. Wnt signaling pathway has been shown to be involved in the regulation of bone remodeling.Case: Native Argentinean boy born from a consanguineous family with history of retinal detachment in the maternal line. Delivered at term, birth weight 2900 g (−0.95 SDS), bi...

Introduction and Objectives: Type 1 DM is a chronic metabolic disease. Its incidence is rising worldwide. We studied demographic criteria, risk factors and epidemiology of children with type 1 DM attending our diabetes control clinic.Methods: This cross sectional study was conducted over 3214 children between 1–18 years who are diagnosed with type 1 diabetes and following up in DEMPU clinic, Cairo university children’s hospital. Between April 2...

Background: Several genetic defects (GHR, SHOX, GHSR, NPR2, IGFALS) have been reported in children classified as ISS. ISS children are GH sufficient and about one third of them show low IGF-I levels, suggesting some degree of GH insensitivity.Objective: To explore potential genetic defects in ISS children suspicious of GH insensitivity, selected by low IGF-I levels and low response to IGF generation test.<...

Background: Human IGF1 gene defects are characterized by intrauterine and postnatal growth retardation, sensorineural deafness, microcephaly and intellectual disability. Seven cases have been reported so far, and the underlying pathophysiology has been characterized in only three.Objective: To describe a patient with severe short stature presenting a novel homozygous IGF1 gene mutation and its underlying pathogenic mechanism.<p clas...

Background: Adolescents with Type 1 Diabetes (T1D) have worse metabolic control than preadolescent children due to poor adherence with medications and insulin resistance related to puberty hormones. Adolescent girls are at a particular risk for poor control as insulin sensitivity decreases in the luteal phase and menstrual cycle. Progesterone, secreted in the second half of the cycle, may cause an increase in appetite and caloric intake....

Introduction: Short stature is a very common complication of juvenile idiopathic arthritis (JIA). Chronic inflammation, long-term corticosteroid therapy, hepatic impairment and malnutrition can reduce the biological effects of IGF-1 and GH. Growth hormone (GH) treatment may improve height growth outcomes in patients with severe juvenile idiopathic arthritis (JIA). The aim of the study was to assess the response to growth hormone (GH) treatment in patients with...