hrp0086p2-p87 | Adrenal P2 | ESPE2016

Urosepsis or Pseudohypoaldosteronism in a Neonate?

Gruber Noah , Lahav Einat , Kassif-Lerner Reut , Pinhas-Hamiel Orit

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...

hrp0092fc1.6 | Diabetes and Insulin Session 1 | ESPE2019

A Novel Biochemical Marker, Fatty Acid-Binding Protein 4, in Diabetic Ketoacidosis in Children

Gruber Noah , Ron Idit , Sheinvald Sharon , Tirosh Amir , Pinhas-Hamiel Orit

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...

hrp0092rfc5.5 | Thyroid | ESPE2019

A Novel Mutation in the Thyroglobulin Gene Leading to Neonatal Goiter and Congenital Hypothyroidism in an Eritrean Infant

Stern Eve , Kassif Eran , Schoenmakers Nadia , Gruber Noah , Pinhas-Hamiel Orit , Yeshayahu Yonatan

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...

hrp0082p2-d1-289 | Bone | ESPE2014

Pseudohypoparathyroidism Type 1A Due to Novel GNAS Mutation

Levy-Shraga Yael , Gruber Noah , Mazor-Aronovitch Kineret , Modan-Moses Dalit , Pinhas-Hamiel Orit

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...

hrp0095p2-159 | Growth and Syndromes | ESPE2022

SHOX haploinsufficiency among patients with idiopathic short stature

Kedar Tal , Marek-Yagel Dina , Gruber Noah , Mazor-Aronovitch Kineret , Pinhas-Hamiel Orit , Yeshayahu Yonatan

Shox gene deficiency which causes short stature is a known indication for treatment with growth hormone. The prevalence of shox deficiency among children with idiopathic short stature has a high variability in different studies and ranges between 1.5-17%. We aimed to determine the incidence of SHOX haploinsufficiency in our region and to assess the genotype-phenotype relation which may help with setting criteria in the decision to which patients should we offer this genetic te...

hrp0092lb-25 | Late Breaking Posters | ESPE2019

Low Trabecular Bone Score in Children with Inflammatory Bowel Diseases

Levy Shraga Yael , Megnazi Ophir , Modan-Moses Dalit , Tripto-Shkolnik Liana , Gruber Noah , Haberman Yael , Shouval Dror , Weiss Batia

Background: Trabecular bone score (TBS) is an emerging technology to assess bone microarchitecture of the lumbar spine. In adults, this score has been shown to be a significant predictor for osteoporotic fractures, independently of major clinical risk factors and bone mineral density (BMD), and is a recommended tool in the evaluation and management of osteoporosis, especially secondary osteoporosis. To date, only few studies evaluated TBS in the pediatric popu...

hrp0086rfc11.6 | Thyroid | ESPE2016

Falsely TSH and Free Thyroid Hormone Measurements in Pediatric Patients Treated with High Dose of Biotin

Gal Moran , Hemi Rina , Gruber Noah , Sheinvald Sharon , Landau Yuval , Rubinshtein Marina , Kanety Hannah , Pinhas-Hamiel Orit

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...

hrp0095p1-359 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Primary Granulomatous Hypophysitis with Panhypopituitarism, presenting as Aseptic Meningitis in a 14-year-old boy

Stern Eve , R Cohen Zvi , Shrot Shay , Greenberg Gahl , Gruber Noah , Modan-Moses Dalit , Pinhas-Hamiel Orit

Background: Hypophysitis is an uncommon inflammatory disorder of the pituitary gland and is classified both clinically (Primary vs secondary) and histologically (lymphocytic, granulomatous or xanthomatous). Primary hypophysitis is exceptionally rare in the paediatric population with only a few cases reported, the majority being Lymphocytic Hypophysitis.Case Report: We present the case of a previously healthy 14-year-old ...

hrp0095p1-515 | Growth and Syndromes | ESPE2022

Distinct Growth Characteristics in Angelman Syndrome

Daka‬‏ Ayman , Heimer Gali , Lapidot Noy , Ben Zeev Bruria , Modan-Moses Dalit , Pinhas-Hamiel Orit , Gruber Noah

Objectives: Angelman syndrome (AS) is a rare, genetic, neurodevelopmental disorder characterized by developmental delay with severe impairments in speech, motor and coordination dysfunction and unique behaviors, accompanied with distinct facial features and high prevalence of epilepsy and sleep problems. Despite few reports regarding short stature among AS patients, this feature has not been extensively studied and is not included in the clinical criteria defi...

hrp0089p1-p049 | Diabetes &amp; Insulin P1 | ESPE2018

Life Changing Decisions due to Etiological Genetic Diagnosis in Families of Children with Maturity Onset Diabetes of the Young (MODY)

Bril Gherta , Vaxillaire Martine , Gruber Noah , Mazor-Aronovitch Kineret , Ben-Ami Michal , Ben-David Rachel Frumkin , Yeshayahu Yonathan , Sand Olivier , Bonnefond Amelie , Froguel Philippe , Pinhas-Hamiel Orit

Background: Maturity Onset Diabetes of the Young (MODY) is a heterogeneous group of disorders characterized by pancreatic beta-cell dysfunction, and usually referred to monogenic forms of diabetes mellitus to distinguish them from the more common type 1 (T1D) or type 2 diabetes (T2D). Fourteen different MODY genetic subtypes have been identified so far. Making a definite diagnosis is very challenging because of overlapping clinical phenotypes between diabetes subtypes. Neverth...