hrp0092p1-347 | Fat, Metabolism and Obesity (2) | ESPE2019

Precocious Pubarche in Spinal Muscular Atrophy Patients with Severe Sarcopenia

Brener Avivit , Lebenthal Yael , Shtamler Anna , Stein Ronnie , Fattal-Valevski Aviva , Sagi Liora

Context: Spinal muscular atrophy (SMA) is an autosomal recessive inherited disease characterized by degeneration of anterior horn cells of the spinal cord and brainstem resulting in variable degrees of muscular atrophy and proximal muscle weakness. In December 2016, nusinersen was FDA-approved for the treatment of SMA in pediatric and adult patients. The introduction of this therapeutic modality has provided a platform for professional medical-care providers i...

hrp0092p2-6 | Adrenals and HPA Axis | ESPE2019

Corticosteroid Use: Practices and Attitudes of Pediatricians

Sekler Opal , Segev-Becker Anat , Interator Hagar , Brener Avivit , Schachter-Davidov Anita , Elkon-Tamir Erella , Lebenthal Yael

Context: Synthetic corticosteroids are medications frequently prescribed for a wide range of medical indications. Various preparations differ in their biological effect, mode of administration, potency and duration of action. Comprehensive knowledge is essential in order to prescribe corticosteroids in an efficient yet safe manner.Objectives: To explore pediatricians' practices and attitudes regarding corticosteroid ...

hrp0084p1-44 | Diabetes | ESPE2015

Is Metabolic Control Affected by Military Service in Young Adults with Type 1 Diabetes?

Brener Avivit , Mel Eran , Shalitin Shlomit , Lazar Liora , de Vries Liat , Tenebaum Ariel , Oron Tal , Philip Moshe , Lebenthal Yael

Background: Young adults with type 1 diabetes (T1D) are exempt from conscript military service due to risk of severe hypoglycaemia and metabolic compromise. Nevertheless, there are patients who volunteer to military service.Aims and objectives: To evaluate the effect of military service on metabolic control and incidence of acute diabetes complications.Methods: Study design: retrospective, comparative analysis. Data of 145 T1D pati...

hrp0094p2-201 | Fat, metabolism and obesity | ESPE2021

Weight status and body composition of children and adolescents during the COVID-19 pandemic

Brener Avivit , Azoulay Erez , Yackobovitch-Gavan Michal , Lopez Adar , Sheppes Tamar , Yaacov Hadar , Gilboa Inbar , Waksman Yarden , Lebenthal Yael ,

Background: The COVID-19 pandemic has tremendous effects on lifestyle that could potentially cause health-related problems. Therefore, extreme preventive measures were taken, including the closure of schools and after school activities. This dramatic alteration in daily routine could lead to adverse consequence of increasing obesity. In this study we aimed to investigate the change in weight status and body composition parameters of children and adolescents du...

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 ...

hrp0086p1-p119 | Bone & Mineral Metabolism P1 | ESPE2016

Novel p.Asn628Ser Heterozygous Mutation in FGFR1 is Associated with Hartsfield Syndrome and Tumoral Calcinosis

Prasad Rathi , Brewer Carole , Burren Christine

Background: Our patient, a male infant has bilateral cleft lip and palate, bilateral split hand and foot, semilobar holoprosencephaly and specific pituitary defects (cranial diabetes insipidus, gonadotrophin deficiency). He developed tumoral calcinosis at 16 months.Objective and hypotheses: Our patient’s phenotype is suggestive of Hartsfield syndrome. We hypothesise that he harbours a FGFR1 mutation given recently published findings associa...

hrp0092p1-66 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Diagnostical Approach to Adrenal Failure in Symptomatical Preterm Infants – is Saliva Derived Free Cortisol the Solution?

Reschke Felix , Sebastian Brenner , Angela Huebner

Introduction: Newborn premature infants are susceptible to develop relative adrenal insufficiency (AI) following transition from fetal to extrauterine life. Clinical signs of AI include hypoglycemia, dysbalanced electrolytes, fatigue and low blood pressure. Collecting serum cortisol samples itself is stressful for the infant, which challenges - in addition to analytic problems due to interference between fetal, placental and maternal derived steroids – th...

hrp0084p3-1069 | Hypo | ESPE2015

Experience Based on 193 18F-DOPA PET CTs in Patients with Congenital Hyperinsulinism: Pearls and Pitfalls in Imaging Diagnostics in Patients with CHI

Kuhnen Peter , Prasad Vikas , Brenner Winfried , Mohnike Wolfgang , Blankenstein Oliver

Background: In congenital hyperinsulinism (CHI) 18F-DOPA PET CT plays an essential role in differentiating between focal and diffuse CHI forms and in the analysis of the localization of a potential focus before surgery.Objective and hypotheses: The aim of this retrospective analysis was the evaluation of the 18F-DOPA PET CT efficacy in a large cohort of CHI patients.Method: In the last few years 193 18</s...

hrp0084p3-1250 | Programming &amp; Misc. | ESPE2015

A Survival Analysis Approach to Assess the Association between Maternal Prepregnancy Overweight and Childhood Overweight: Results of the Ulm Birth Cohort Study (UBCS)

Brandt Stephanie , Brenner Hermann , Genuneit Jon , Rothenbacher Dietrich , Wabitsch Martin

Background: It has been suggested that maternal prepregnancy overweight has an effect on childhood overweight.Objective: We aimed to use a survival analysis approach to investigate the association between maternal prepregnancy overweight and childhood overweight in the prospective Ulm Birth Cohort Study (UBCS).Design: At baseline n=1086 mothers and their newborns agreed to participate in the UBCS. Weight and height values ...

hrp0089fc6.5 | Fat, Metabolism and obesity | ESPE2018

The Role of Adipocytes in Childhood Precursor Bcell Lymphoblastic Leukemia

Brenner Elena Dorothea , Zinngrebe Julia , Dahlhaus Meike , Meyer Lueder-Hinrich , Wabitsch Martin , Debatin Klaus-Michael , Fischer-Posovszky Pamela

Acute lymphoblastic leukemia (ALL) is the most prevalent cancer in childhood. Over the past decades, survival rates increased, but relapse is still associated with a poor prognosis, especially if the bone marrow (BM) is affected. Marrow adipose tissue (MAT) constitutes a major part of the BM niche, but its impact on normal hematopoiesis versus leukemia initiation, progression and relapse has only recently gained attention. MAT is very sensitive to changes in the patient’s...