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...

hrp0084ha1 | Mutations in IGSF10 cause Self-limited Delayed Puberty, via Effects on GnRH Neuronal Migration | ESPE2015

Mutations in IGSF10 cause Self-limited Delayed Puberty, via Effects on GnRH Neuronal Migration

Howard Sasha , Guasti Leonardo , Mancini Alessandra , David Alessia , Storr Helen , Metherell Louise , Sternberg Michael , Cabrera Claudia , Warren Helen , Barnes Michael , Wehkalampi Karoliina , Andre Valentina , Gothilf Yoav , Cariboni Anna , Dunkel Leo

Background: Timing of puberty is associated with height, cardiovascular health and cancer risk, with a significant public health impact. Previous studies estimate that 60–80% of variation in the timing of pubertal onset is genetically determined. Self-limited delayed puberty (DP) often segregates in an autosomal dominant pattern, but the underlying genetic background is unknown.Methods: We performed whole exome sequencing in 52 members of 7 families...

hrp0094p1-138 | Growth Hormone and IGFs A | ESPE2021

Safety and effectiveness of pediatric growth hormone therapy: Results from the full cohort in KIGS

Maghnie Mohamad , Ranke Michael B , Geffner Mitchell E , Vlachopapadopoulou Elpis , Dorr Helmuth G , Wikland Kerstin Albertsson , Ibanez Lourdes , Carlsson Martin , Cutfield Wayne , Rooman Raoul , Gomez Roy , Wajnrajch Michael P , Linglart Agnes , Stawerska Renata , Polak Michel , Grimberg Adda ,

Objective: KIGS (Pfizer International Growth Survey) was a large, international database of pediatric patients who received recombinant human growth hormone (rhGH) as prescribed in real-world clinical settings. This analysis evaluated the long-term safety and efficacy data from all participants until KIGS close in 2012.Methods: Children with growth disorders and treated with rhGH (Genotropin® [somatropin]...

hrp0098fc15.2 | Late Breaking | ESPE2024

Amount and Pattern Of Pulsatile GH Secretion Induced By The Oral Growth Hormone Secretagogue LUM-201 Is Related To Growth And IGF-1 Responses In Moderate Pediatric Growth Hormone Deficiency (PGHD)

Roslan Amirul , Román Rossana , Avila Alejandra , Said Daniela , Baier Ingrid , L. Brincks Erik , Bruchey Aleksandra , C. McKew John , Duke Pitukcheewanont Pisit , L. Johnson Michael , Garner Terence , O. Thorner Michael , E. Clayton Peter , Stevens Adam , Cassorla Fernando

Background: Oral LUM-201 normalizes growth rates in moderate PGHD over 12 months (Phase 2 Trials: OraGrowtH210/OraGrowtH212) [FC-746 ESPE 2024]. In OraGrowtH212, GH profiles, based on 10-minute sampling over 12 hours (8am-8pm), showed significant increases in inter-pulse, pulsatile and total GH secretion in response to 1.6 and 3.2 mg/kg/day doses of LUM-201 over 6 months, with no difference between the doses [FC14.3, ESPE 2023].O...

hrp0095fc4.4 | Fat, Metabolism and Obesity | ESPE2022

Inhibition of Neuritin 1 induces browning in human white adipocytes and protects from obesity in vivo

Tews Daniel , Roos Julian , Winter Gordon , Beer Ambros , Rasche Volker , Nedivi Elly , Debatin Klaus-Michael , Wabitsch Martin , Fischer-Posovszky Pamela

Recently, we identified Neuritin 1 (NRN1) as preferentially expressed in human white compared to brown adipocyte progenitor cells. In mice, Nrn1 deficiency leads to a reduction in body weight, indicating that it might regulate body weight. In this study, we aim to address the function of NRN1 regarding adipocyte metabolism in vitro and in vivo. We used human SGBS preadipocytes as an in vitro model system. NRN1-deficient cells were generated using len...

hrp0092fc14.5 | GH and IGF5 | ESPE2019

OOnce-weekly Somapacitan vs Daily Growth Hormone (Norditropin®) in Childhood Growth Hormone Deficiency: One-year Results from a Randomised Phase 2 Trial

Sävendahl Lars , Battelino Tadej , Horikawa Reiko , Juul Rasmus Vestergaard , Rasmussen Michael Højby , Saenger Paul

Daily injections are required for human growth hormone (GH) replacement therapy. Somapacitan is a long-acting GH derivative being developed for once-weekly dosing in adults and children using a proven protraction method, currently successfully in use to extend the half-life of insulin and glucagon-like peptide 1.To evaluate the efficacy and safety of three different once-weekly somapacitan doses compared with Norditropin®, a daily GH, ove...

hrp0092fc15.4 | Late Breaking Abstracts | ESPE2019

Defects in the GnRH Neuroendocrine Network Affect the Timing of Puberty

Saengkaew Tansit , Mancini Alessandra , Ruiz-Babot Gerard , Cabrera Claudia , Barnes Michael , Dunkel Leo , Guasti Leonardo , Howard Sasha

Background: Self-limited delayed puberty (DP) is an extreme variant of normal pubertal timing and it often clusters in families. Although it is highly heritable and is the most common cause of delayed puberty, little is known about the genetic control. GnRH neuronal biology has been implicated as a key element in the pathogenesis of DP. By focusing on genes involved in GnRH neuron development, migration and function we may understand more about the genetic bas...

hrp0092p2-32 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Pediatric Patients with Heterozygous ALPL Mutation show a Broad Clinical Phenotype

Melanie Brichta Corinna , Wurm Michael , Krebs Andreas , Lausch Ekkehart , Van der Werf-Grohmann Natascha , Schwab Karl Otfried

Introduction: Hypophosphatasia (HPP) is a congenital disorder of the bone and mineral metabolism. It is based on mutations in the ALPL gene, which codes for tissue-unspecific alkaline phosphatase (TNSAP). Methods:The casuistic of 3 children with heterozygous ALPL mutation are presented. The patients were identified by laboratory data screening for reduced AP activity at the Children's Hospital of the University Hospital Freiburg....