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...

hrp0098p2-210 | Multisystem Endocrine Disorders | ESPE2024

Endocrine Phenotypic Variability in Schaaf-Yang Syndrome: Insights from a Case Series

Goldman Shira , Gruber Noah , Mazor Aronovitch Kineret , Katz Julia , Pode-Shakked Ben , Rein-Rothschild Annick , Pinhas-Hamiel Orit

Introduction: Schaaf-Yang syndrome (SYS) is a rare neurodevelopmental disorder first identified in 2013, characterized by features overlapping with Prader-Willi syndrome (PWS) but distinguished by unique symptoms, such as joint contractures and high rates of autism spectrum disorder (ASD). SYS is caused by pathogenic heterozygous variants in the paternally-derived MAGEL2 allele. We sought to describe a case series of three SYS patients, highlighting t...

hrp0097p1-238 | Diabetes and Insulin | ESPE2023

MiniMed 780G Advanced Hybrid Closed Loop System Outcomes According to Pubertal Status - Awesome Study Group Real-Life Experience

Rachmiel Marianna , Lebenthal Yael , Kineret Mazor-Aronovitch Kineret , Brener Avivit , Levek Noah , Polishuk-Yakobi Talia , Tal Ben Tal , Abiri Shirli , Landau Zohar , Pinhas-Hamiel Orit

Background and aims: Achieving good glycemic control is a major challenge for adolescents with type 1 diabetes (TID). The introduction of the MiniMed 780G system, an advanced hybrid closed-loop (AHCL), that enables an automatic correction of insulin, gave hope for improved glycemic outcomes in adolescents. We assessed specific characteristics associated with glycemic measures in youth with T1D switching to Minimed 780G.Methods:</...

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...

hrp0092rfc7.5 | Diabetes and Insulin Session 2 | ESPE2019

Dual Diagnosis of Type 1 Diabetes and ADHD

Mazor-Aronovitch Kineret , Pinhas-Hamiel Orit , Modan-Moses Dalit , Levek Noah , Pivko-Levy Dikla , Miller Shahar , Graph-Barel Chana , Frumkin Ben-David Rachel , Ben-Ami Michal , Stern Eve Z , Gruber Noah , Levy-Shraga Yael , Landau Zohar

Background: Attention-deficit/hyperactivity disorder (ADHD) is the most common neurobehavioral disorder of childhood. Type 1 diabetes (T1DM) is the most common metabolic disease in children. The treatment of T1DM requires high executive functions and requires very intensive treatment that could be an obstacle for patients with ADHD. Dual diagnosis of T1DM and ADHD might affect treatment, control and complications of T1DM. In order to prevent long-term complica...

hrp0092p1-31 | Diabetes and Insulin | ESPE2019

Dual Diagnosis of Type 1 Diabetes and ADHD

Mazor-Aronovitch Kineret , Pinhas-Hamiel Orit , Modan-Moses Dalit , Levek Noah , Pivko-Levy Dikla , Miller Shahar , Graph-Barel Chana , Ben-David Rachel Frumkin , Ben-Ami Michal , Stern Eve Z , Gruber Noah , Levy-Shraga Yael , Landau Zohar

Background: Attention-deficit/hyperactivity disorder (ADHD) is the most common neurobehavioral disorder of childhood. Type 1 diabetes (T1DM) is the most common metabolic disease in children. The treatment of T1DM requires high executive functions and requires very intensive treatment that could be an obstacle for patients with ADHD. Dual diagnosis of T1DM and ADHD might affect treatment, control and complications of T1DM. In order to prevent long-term complica...

hrp0089fc10.6 | Late Breaking | ESPE2018

Primary Ovarian Insufficiency Incidence Rate and ETIOLOGY AMONG ISRAELI ADOLESCENTS between the Years 2000–2016 – A Multi-Center Study

Gruber Noah , Kugler Shir , de Vries Liat , Brener Avivit , Zung Amnon , Eyal Ori , Rachmiel Marianna , Koren Ilana , Tenenbaum-Rakover Yardena , Hershkovitz Eli , Landau Zohar , Oren Meirav , Eliakim Alon , Zangen David , German Alina , Majdoub Hussein , Mazor-Aronovitch Kineret , Modan-Moses Dalit , Yeshayahu Yonatan , Naugolni Larisa , Levy-Shraga Yael , Ben-Ami Michal , Brill Gherta , Levy-Khademi Floris , Avnon-Ziv Carmit , Tiosano Dov , Harel Shira , Kedem Einat , Segev-Becker Anat , Shoenfeld Yehuda , Pinhas-Hamiel Orit

Introduction: Primary ovarian Insufficiency (POI) occurring in youth is a devastating condition. POI is characterized by at least 4 months of disordered menses in association with menopausal follicle stimulating hormone (FSH) levels. The most common causes of POI in adolescence are iatrogenic and chromosomal abnormalities. Data are scarce regarding the incidence of POI in adolescents.Objectives: We aimed to estimate the incidence and the distribution of ...