ESPE Abstracts

Background: Pseudohypoaldosteronism (PHPA1) is a disorder of impaired renal electrolytes re-absorption and excretion. Primary PHPA1 has two clinically and genetically distinct forms: (i) Renal autosomal dominant form, which involves a mutation in the mineralocorticoid receptor; (ii) Systemic autosomal recessive form, which involves a mutation in the epithelial sodium channel. PHPA1 can be also transient secondary to urinary tract infections (UTI)/malformations.<p class="ab...

Background: Recent studies showed that Rotavirus vaccination may affect the prevalence of type 1 diabetes (T1D). Our aim is to determine the prevalence of early childhood (<5 years) T1D before and during the introduction of Rotavirus vaccination in Israel by syndromic surveillance.Methods: Data on insulin purchases reported by Israel’s four health care organizations (HMOs) was retrieved from the National Program...

Introduction: Diabetic ketoacidosis (DKA) is the most common cause of hospitalization, cerebral edema, and death among children with type 1 diabetes (T1D). Fatty acid-binding protein 4 (FABP4 or aP2) is one of the most abundant proteins in adipocytes and has been shown to be actively secreted from adipocytes. Circulating FABP4 is regulated by fasting- and lipolysis-related signals and contributes to hyperglycemia by promoting hepatic gluconeogenesis and interf...

Background: Congenital hypothyroidism is a common condition with reported incidence between 1/2000 – 1/4000 live births. In approximately 85% of cases this is sporadic due to a structural abnormality of the thyroid gland. Approximately 15% of cases are hereditary and secondary to thyroid dyshormonogenesis. Most of these are due to mutations in one of the genes involved in iodine transport or organification, mutations in the thyroglobulin gene or d...

Background: Growth hormone (GH) is a diabetogenic hormone.Objective: To determine the long term risk for diabetes in a cohort of children treated with recombinant human (rhGH) in Israel, using data from the Israeli National Diabetes Register (INDR) for 2014 as a reference.Methods and patients: Between the years 1988 and 2009, 2,513 children under the age of 19 were approved for GH treatment. The patients were categorized to a low-r...

Background: Pseudohypoparathyroidism (PHP) encompasses a group of rare disorders defined by target organ unresponsiveness to parathyroid hormone (PTH). Patients with PHP type 1A carry heterozygous mutations of the maternal GNAS gene that encodes the α-subunit of the G protein. This protein is coupled to the PTH receptor as well as to other heptahelical receptors - TSH, GHRH and gonadotropins receptors.Objective and hypotheses: To describe a...

Background: TV-1106 (Teva Pharmaceuticals Ltd) is a genetically fused recombinant GH (rhGH) and human serum albumin in development as a once weekly treatment of GH deficiency (GHD) in children and adults. TV-1106 has an extended duration of action compared to daily rhGH treatment, reducing the frequency of injections.Objective and hypotheses: The pharmacokinetics and pharmacodynamics of TV-1106 were evaluated in phase 2 study using non-compartmental anal...

Background: Loss of function mutations of CYP24A1, encoding vitamin D-24-hydroxylase, have been recently identified in idiopathic infantile hypercalcemia (IIH), a rare entity which may lead to severe complications.Objective: We describe a unique neurological presentation in an infant with IHH due to a novel CYP24A1 mutation.Case presentation: The patient was born at term after normal pregnancy to healthy non-consanguineous parents....

Introduction: Pediatricians are becoming key figures for gender dysphoric persons, as the number of children seeking information or treatment for gender dysphoria rises. Puberty suppression and affirming approach, have been shown to improve both psychological functioning and physical outcome. However, recent data show that most children referred were too old to receive this treatment. One barrier that can preclude appropriate care is pediatricians’ attitudes towards trans...

Background: Immunoassays are subjected to a number of interferences giving abnormal results which may lead to unnecessary investigations and treatment. We present clinical cases in which biotin treatment could be involved in abnormal results of thyroid function tests (TFTs) obtained by immunoassays based on biotinylated antibodies/analogs.Objective and hypotheses: Three infants were admitted to intensive care unit (ICU) during 2015, in Edmond and Lilly S...