hrp0097p1-492 | GH and IGFs | ESPE2023

GH stimulation testing: is it time to change the paradigm?

Smuel Keren , Lazar Liora , Yackobovitch-Gavan Michal , Tirosh Liron , Phillip Moshe , Oron Tal , Sarah Flanagan , Jayne Houghton

Background: The efficacy of growth hormone (GH) treatment in short, healthy children diagnosed with growth hormone deficiency (GHD) or those meeting the criteria of idiopathic short stature (ISS) suggest that an overlap exists between these two conditions. Although flawed and inconsistent, growth hormone stimulation tests (GHST) are the key diagnostic tool differentiating between GHD and ISS affecting clinical decisions such as treatment eligibility and dose.<...

hrp0097p1-588 | Thyroid | ESPE2023

The effect of gestational Graves’ disease on the mother-infant dyad: a retrospective observational cohort study

Cohen-Sela Eyal , Brener Avivit , Raviv Orian , Yackobovitch-Gavan Michal , Almashanu Shlomo , Marom Ronella , Anteby Matan , Hiersch Liran , Lebenthal Yael

Context: Pregnancy and parturition involve a complex interplay between maternal health and that of her offspring. Graves’ disease and its management have been associated with adverse pregnancy, labor and delivery, as well as neonatal outcomes. Adaptation of the hypothalamic-pituitary-thyroid axis can be reflected by measuring thyroid function levels in newborn screening (NBS).Objective: To investigate the character...

hrp0098fc5.4 | Growth and Syndromes | ESPE2024

Predictors of short stature at age 6-7 years in Israeli children

Fisch-Shvalb Naama , Yackobovitch-Gavan Michal , Fliss-Isakov Naomi , Blaychfeld Magnazi Moran , Phillip Moshe , Endevelt Ronit , Morali Yair , Brooks Nati

Background and aims: Disparities in children's height often reflect socio-economic inequalities. Our aims were: (A) to describe anthropometric and socio-demographic data of children with short stature (CDC based height-z score<-2SDS) at age 6-7 years, compared to peers with height-z score≥-2SDS. (B) To assess risk factors for short stature at age 6-7 years based on growth and socio-demographic data at age 0-2 years.Met...

hrp0098p2-99 | Fat, Metabolism and Obesity | ESPE2024

Body Composition in Pediatric Patients with Craniopharyngioma following Surgical Treatment

Zaitoon Hussein , Eyal Ori , Yackobovitch-Gavan Michal , Regev Ravit , Issan Yael , Roth Jonathan , Constantini Shlomi , Lebenthal Yael , Brener Avivit

Objective: Craniopharyngiomas, diagnosed and treated during childhood, pose significant challenges due to their location in the sella turcica, adjacent to the pituitary and hypothalamus. Patients often experience endocrine deficiencies which may affect their body composition and metabolic health. We aim ed to explore the body composition components and their interaction with metabolic syndrome components in pediatric patients with craniopharyngioma following n...

hrp0098p2-319 | Late Breaking | ESPE2024

Sex, age and irisin levels in pediatric type 1 diabetes: a pilot study

Averbuch Shay , Gaiduk Oksana , Yackobovitch-Gavan Michal , Laurian Irina , Dorfman Anna , Shefer Gabi , Brener Avivit , Lebenthal Yael

Background: Irisin is a myokine involved in the browning of adipocytes, regulation of body composition, and enhancement of glycemic control. Additionally, irisin has been suggested to play a role in the signaling mechanisms associated with activation of the hypothalamic-pituitary-gonadal axis and the onset of puberty. Given the reported relationship between irisin levels and glycemic control, as well as the link between body composition and glycemic control, w...

hrp0095p2-257 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

A Novel Discovered Role for CFTR in Azoospermia and Wolffian Duct Maldevelopment Caused by Cryptorchidism

Hadziselimovic Faruk , Verkauskas Gilvydas , Stadler Michael

Aim of the Study: Cryptorchidism occurs more frequently in CF-children, and malformed epididymis was found more in cryptorchid boys with abrogated mini-puberty. Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) is transporter protein that acts as a chloride channel. Specifically, CFTR is associated with spermatogenesis and fertility.Patients and Methods: Testicular biopsies for histological and RNA analysis from...

hrp0092p1-177 | Bone, Growth Plate and Mineral Metabolism (1) | ESPE2019

Severe Hypocalcaemia in Propionic Acidaemia caused by Parathyroid Hormone Resistance and treated with Alfacalcidol

Sandy Jessica , Champion Michael , Cheung Moira

Introduction: Propionic Acidaemia (PA), an organic acidaemia, is characterized by episodes of decompensation with severe metabolic acidosis and hyperammonaemia. PA is associated with low bone mineral density and osteoporosis. Hypocalcaemia is known to occur in 35-65% of decompensations, however the underlying pathophysiology remains unclear. PTH resistance has previously only been described in one case of hypocalcaemia in PA and we report the first use of ...

hrp0089fc11.5 | Bone, Growth Plate &amp; Mineral Metabolism 2 | ESPE2018

A Recurrent 6-bp Intronic Deletion in NESP55 with Reduced Penetrance in Pseudohypoparathyroidism Type 1b

Li Dong , Hakonarson Hakon , Levine Michael

Background: Pseudohypoparathyroidism type 1b (PHP1b) is caused by epigenetic errors on the maternal GNAS allele at differentially methylated regions (DMRs) associated with exons A/B, XL, and NESP that lead to reduced production of Gαs transcripts most notably in the renal proximal tubule and thyroid follicular cells. Most PHP1b cases appear sporadically, few of which can be explained by paternal uniparental disomy involving chromosome 20q, leading to global methy...

hrp0089p3-p387 | Thyroid P3 | ESPE2018

Graves’ Disease, Methimazole and SLE-like Reaction:A Case Report

Yafi Michael , Pillai Chanthu , Cox Charles

Background: Graves’ disease therapy in young children may be challenging due to lack of therapy options. The safety of Radioiodine Ablation (RIA) has not been proven in children under age of 10 years. Propylthioracil (PTU) therapy has been linked to hepatic failure and became contraindicated in pediatrics.The case: A 6-year-old female was diagnosed with Graves ‘disease and treated with Methimazole (MTZ) and Propranolol. A few days after startin...

hrp0097fc7.6 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2023

GnRHa response patterns of testis expressed genes in cryptorchid boys

Hadziselimovic Faruk , Verkauskas Gilvydas , Stadtler Michael

Introduction: Most testis expressed (TEX) genes are testis-specific and evolutionarily conserved and several studies have reported important roles of TEX11, TEX12, TEX14, TEX15 and TEX 101 in mammalian fertility. Retrotransposons are thought to be critical for the evolution of mammalian genomes. TEX19 functions in the post-translational regulation of L1 retrotransposons, which are involved in maintaining trans-generational genome stability. In boys with crypto...