hrp0095p1-17 | Adrenals and HPA Axis | ESPE2022

Expanding the phenotype of deglycosylation disorders: Adrenal Insufficiency and Micropenis in NGLY1-CDDG

Levy-Khademi Floris , Korman Stanley , Auerbach Adi , Avnon-Ziv Carmit

Background: NGLY1 encodes the enzyme N-glycanase that catalyzes protein deglycosylation in the process of protein degradation. Loss of function mutations in NGLY1 lead to a disorder of N-linked deglycosylation which is a rare multisystemic disease. The typical phenotype includes intellectual disability, liver dysfunction, muscular hypotonia, involuntary movements and decreased or absent tear production. Adrenal insufficiency has been previously reported in onl...

hrp0095p1-261 | Diabetes and Insulin | ESPE2022

Parental stress in children with type 1 diabetes from different socioeconomic backgrounds

Levy-Khademi Floris , Heifetz Eliyahu , Avnon-Ziv Carmit , Auerbach Adi , Birnbaum Hanna

Background: Type 1 diabetes is one of the most common chronic diseases in childhood. Parents of children with type 1 diabetes are significantly involved in the treatment, rendering them vulnerable to parental stress. Psychological difficulties experienced by the parents may have adverse effects on disease management and the child's psychological and somatic health.Objectives: To assess parental stress and factors in...

hrp0095lb21 | Late Breaking | ESPE2022

Glucose levels are not the same for everyone: A real-world big data study evaluating glucose levels by sex and age among children

Avnon Ziv Carmit , Banon Tamar , BenTov Amir , Aeurbach Adi , Hirsch Harry , Levy Khademi Floris

Purpose: Understanding the normal range of laboratory values as pertained to different age groups and males or females is paramount in health care delivery. We aimed to assess the distribution of glucose levels by age and sex in the general population of children using a large-scale population-based cohort.Methods: A retrospective study with real-world de-identified data from a large, state mandated health fund in Israel...

hrp0092p3-16 | Adrenals and HPA Axis | ESPE2019

Pneumocystis Jiroveci Pneumonitis Complicating Neonatal Cushing's Syndrome - the Therapeutic Dilemma

Auerbach Adi , Gillis David , Megged Orly , Shahroor Sarit , Avnon-Ziv Carmit , Hirsch Harry , Levy-Khademi Floris

Background: Endogenous Neonatal Cushing's syndrome (CS) is a rare condition with around 100 cases reported worldwide. Pneumocystis Jiroveci pneumonitis (PJP) is a well described, albeit rare, complication of exogenous CS (i.e. CS resulting from external glucocorticoids). The pneumonitis usually occurs following reduction of glucocorticoid dosage and is therefore thought to be triggered by an inappropriate immune reaction evident after glucocorticoids withd...

hrp0092p3-296 | Late Breaking Abstracts | ESPE2019

Neonatal Severe Hyperparathyroidism - Using Genetics to Determine Treatment

Avnon Ziv Carmit , Beeri Rachel , Levy-Lahad Ephrat , Aurbach Adi , Levy-Khademi Floris

Background: Disorders of the calcium sensing receptor (CaSR) cause hyper- and hypo- calcemia, depending on the location and type of mutation. Familial hypocalciuric hypercalcemia is a benign disorder in which calcium levels are slightly elevated in the presence of slightly elevated parathyroid hormone (PTH). Neonatal severe hyperparathyroidism (NSHPT) is a rare life-threatening disorder in which there are high levels of calcium accompanied by high levels of pa...

hrp0097p1-37 | Diabetes and Insulin | ESPE2023

Dietary Intake in Children and youth with Type 1 Diabetes from Different Ethnic Backgrounds and its Relation to Different Metabolic Parameters

M. Heifetz Eliyahu , Avnon- Ziv Carmit , Auerbauch Adi , Dagan Tal , Hershkop Karen , Levy-Khademi Floris

Background: Medical nutrition therapy is one of the cornerstones of the treatment of type 1 diabetes. Nutrition is affected by many factors including ethnicity, socioeconomic background, and culture.Objectives: To evaluate the nutritional status in a cohort of children with type 1 diabetes from different ethnic backgrounds and to seek differences among the groups. In addition determine the effect of nutrition on metaboli...

hrp0095p1-525 | Growth and Syndromes | ESPE2022

Growth Hormone IGF-1 axis and treatment with Growth Hormone in PGM1 deficiency

Auerbach Adi , H Korman Stanley , Jaron Ranit , Peled Segel Reeval , D Wexler Isaiah , Avraham Zehavi , Claire King Mary , Rosenfeld Nuphar , Levy-Lahad Ephrat , Abu-Libdeh Abdulsalam , H Zangen David , Levy- Khademi Floris

Background: Phosphoglucomutase 1 (PGM-1) deficiency is a congenital disorder of glycosylation caused by an impairment of glucose-1-phosphate and glucose-6-phosphate interconversion.The clinical phenotype of PGM1 deficiency is variable and includes several endocrine manifestations such as recurrent hypoglycemia and short stature, which may be associated with the decreased levels of growth hormone (GH), insulin like growth factor-1 (IGF1) ...

hrp0092p1-128 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

The Novel Founder Homozygous V225M Mutation in the 17HSDB3 Gene Causes Aberrant Splicing and Severe XY-DSD

Levy-Khademi Floris , Zeligson Sharon , Klopstock Tehila , Chertin Boris , Avnon-Ziv Carmit , Renbaum Paul , Lavi Eran , Sharaf Muna , Perlman Shira , Behar Doron , Zahade Fouad , Levy-Lahad Ephrat , Zangen David , Segel Reeval

Background: Mutations in the gene HSD17B3 encoding the 17-beta hydroxysteroid dehydrogenase 3 enzyme cause testosterone insufficiency leading to XY DSD. In this study the clinical characteristics and molecular etiology of 3 new severe XY DSD cases from consanguineous families are elucidated.Clinical report: Three female patients (2 sisters and a single unrelated female) presented at ages 0.1, 8 and 0.7 years with ambiguo...

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 ...