ESPE Abstracts

Background: Some IGFALS variants have been reported in more than one ALS-deficient family raising the question whether they originated from a single common ancestor allele (founder effect) or alternatively, as independent mutational events (hot spot). Since c.103dupG (p.E35Gfs*17) is located in a stretch of five consecutive guanine residues, where both G-duplication and deletion have been described in several families, we speculate that this region could be a hot spot...

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...

Introduction: Thyroid carcinoma in pediatric and young adult population presents contradictory features: it has higher rates of multifocal disease, local and distant metastasis and reccurence compared to the adult population, yet the 5-year survival rate is 98%. The rising incidence seen recently cannot be entirely explained by overdiagnosis, as increasing rates of advanced-stage disease are also observed. The rise consists primarily of papillary thyroid carci...

Introduction: Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys. PMDS is caused by mutations in the genes coding anti-Müllerian hormone (AMH, PMDS type 1) or the AMH receptor (AMHR2 gene, PMDS type 2) and it usually presents as undescended testes (cryptorchidism) or inguinal hernia...

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: 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: DKA is the most common cause of hospitalization, morbidity, and death in children with T1DM. Based on the International Society of Pediatric and Adolescent Diabetes (ISPAD) 2022, the biochemical criteria of DKA are: hyperglycemia (blood glucose >200 mg/dL), acidosis (venous pH <7.3 or bicarbonate <18 mmol/L), and ketonemia or moderate/large ketonuria. The principles of ABC (airway, breathing, circulation, and fluid resuscitation) are the...

Background: Hyperuricemia has been found to be associated with non-alcoholic fatty liver disease (NAFLD).Aim: The aim of this study was to evaluate whether allopurinol affects the course of experimental NAFLD in rats.Study Design: Mature, albino Sprague Dawley rats were fed water containing 30% fructose without ethanol for up to 8 weeks. After demonstration of steatosis in the 8th week, either allopurinol or saline was administered...

Background: It is sometimes difficult to diagnose and manage fluid and electrolyte imbalance after surgery for hypothalamic/pituitary tumors. We present a pediatric case of severe SIADH successfully treated with tolvaptan after suprasellar tumor resection.Case: The case was 8-year-old girl with growth failure. She was found to have suprasellar tumor on CT scan when she accidentally fell down and hit her head. MRI suggest...

Background: Hereditary Nephrogenic Diabetes Insipidus (HNDI) is an uncommon disorder due to a resistance to anti diuretic hormone (ADH) leading to a reduced urinary concentrating ability. The X-linked form is fully expressed in hemizygous male patients, but diabetes insipidus may also present in heterozygous females where it must be distinguished from autosomal and other secondary causes.Objective and hypotheses: We report a mother and daughter with HNDI...