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...

hrp0092rfc3.3 | Multi-system Endocrine Disorders | ESPE2019

The Founder Homozygous NR5A1 Gene Mutation p.R103Q Causes Asplenia and Severe XY-DSD and XX-DSD in a Palestinian Cohort

Abdulhadi-Atwan Maha , Hidesh Guy , Abulibdeh Abdulsalam , Hirsch Harry , Klopstock Tehila , Levy-Lahad Ephrat , Zangen David

Background: Mutations in Steroidogenic factor 1 (SF-1; also known as NR5A1), a transcription factor involved in sexual differentiation, steroidogenesis and reproduction, have been associated with mild to severe XY and XX DSDs and adrenal failure. Asplenia and complete XY sex reversal were recently reported in a Palestinian patient homozygous for p.R103Q NR5A1 mutation.Clinical Cases: Five Pales...

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...