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...

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...

hrp0086rfc9.1 | Pathophysiology of Disorders of Insulin Secretion | ESPE2016

Neonatal Diabetes due to NKX2.2 Mutation – Genotype, Clinical Phenotype and Therapeutic Challenges in a Very Low Birth Weight Diabetic Neonate

Auerbach Adi , Shlomai Noa Ofek , Shokrun Ariella Weinberg , Levy-Lahad Ephrat , Zangen David

Background: Insulin treatment in a very low birth weight neonate having persistent hyperglycemia is challenging. The very recently reported novel human genetic cause of neonatal diabetes due to NKX2.2 pancreatic transcription factor mutations is associated with very low birth weight deliveries.Objective and hypotheses: To study the diagnostic process, the molecular genetics, the clinical phenotype, and the significant therapeutic challenges in the manage...

hrp0089p3-p125 | Fat, Metabolism and Obesity P3 | ESPE2018

NKX2-2 Human Mutation Causes Neonatal Diabetes followed by Severe Infantile Obesity Associated with Paradoxical Upregulated Ghrelin Levels – Do Beta-cells Secrete Ghrelin?

Auerbach Adi , Cohen Amitay , Lavi Eran , Abdulhaq Najwa , Shokrun Ariella Weinberg , Levy-Lahad Ephrat , Hemi Rina , David Zangen

Background: NKX2-2 gene mutation (reported in 3 cases worldwide) cause severe IUGR and neonatal diabetes. Beta-cells of the mice Nkx2-2 (−/−) model were recently shown to convert into cells producing the appetite-promoting peptide ghrelin. Classically, ghrelin secretion is stimulated during fast and suppressed by nutrients or glucose ingestion in all age groups. In obese children this ghrelin suppression reaches a minimum of 60% of base...

hrp0086p1-p349 | Gonads & DSD P1 | ESPE2016

Severe 5 Alpha Reductase 2 Deficiency with Aphallia is Caused by p.Y91H SRD5A2 Mutation and is Responsive to Dihydrotestosterone Administration During Childhood

Auerbach Adi , Weinberg Shokrun Ariella , Abdelhak Najwa , Lavi Eran , Hidas Guy , Landau Yehezkel , Levy-Lahad Ephrat , Zangen David

Background: 5-alpha-reductase-2 (5α-RD2) deficiency is an autosomal recessive 46,XY disorder of sexual development, characterized by undervirilized prepubertal males with ambiguous genitalia. The pubertal rise in testosterone and 5α-RD1 isoenzyme activity causes virilization, often resulting in gender assignment change. Early precise diagnosis which anticipate adult function is critical for treatment and gender assignment.Objective and hypothes...

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) ...