hrp0084p1-30 | Diabetes | ESPE2015

A Novel Mutation in the abcc8 Gene Causing a Variable Phenotype of Impaired Glucose Metabolism in the Same Family

Maines Evelina , Hussain Khalid , Flanagan Sarah E , Ellard Sian , Piona Claudia , Morandi Grazia Grazia , Ben Sarah Dal , Cavarzere Paolo , Antoniazzi Franco Franco , Gaudino Rossella

Background: Dominantly acting loss-of-function mutations in the ABCC8 gene, encoding the sulfonylurea receptor 1 (SUR1) subunit of the β-cell potassium channel (KATP), are usually responsible for mild diazoxide-responsive congenital hyperinsulinism (CHI). In rare cases dominant ABCC8 mutations can cause diffuse diazoxide-unresponsive CHI. Recent reports suggest that medically responsive CHI due to a dominant ABCC8 mutation may confer an increase...

hrp0084p1-70 | Fat | ESPE2015

Outcome of Adolescents Undergoing Bariatric Surgery – 1 Year Follow-Up

Ben-Ami Michal , Bacher Maayan , Vusiker Irena , Pink Reut , Stein Daniel , Vagner Benjamin , Raz-Dubnov Gal , Yardeni Danny , PInhas-Hamiel Orit

Background: Adolescent obesity has been steadily increasing all over the developed world for the past several decades. Bariatric surgery in morbid obese adolescents is gaining popularity. The main surgical technique that is used on adolescents in Israel is a gastric sleeve.Aims: To study clinical and laboratory outcomes of adolescent patients 1 year after they underwent bariatric surgery.Methods: Anthropometric, clinical and labora...

hrp0084p3-1242 | Turner | ESPE2015

To Predict Ovarian Function is a Single Determination of AMH Useful in Patients with Turner Syndrome?

Piona Claudia Anita , Cavarzere Paolo , Gaudino Rossella , Ben Sarah Dal , Ramaroli Diego , Gelati Matteo , Guidi Gian Cesare , Salvagno Gian Luca , Antoniazzi Franco

Background: Different studies have underlined the role of anti-Müllerian hormone (AMH) and inhibin B as markers of the ovarian function in paediatric and adolescent patients with Turner syndrome (TS).Objective and hypotheses: Our study aims to verify the role of AMH in a cohort of patients affected by TS.Method: We analysed 23 TS patients, aged 2–34 years, describing their auxological parameters and the pubertal developme...

hrp0097rfc1.1 | Adrenals and HPA Axis | ESPE2023

Unfavorable Body Composition in Children with Premature Adrenarche: Implications for Metabolic Health

Ben Simon Asaf , Uretzky Adi , Yackobovitch-Gavan Michal , Segev-Becker Anat , Midlij Eyas , Borger Ophir , Laurian Irina , Dorfman Anna , Brener Avivit , Lebenthal Yael

Context: Premature adrenarche (PA) could pose an increased risk of obesity and metabolic derangements in adolescence and early adulthood. However, little is known about the body composition of children with PA and its association to the development of adverse metabolic outcomes.Aim: To describe the body composition of children with PA and explore the interaction between PA and metabolic syndrome components.<p class="...

hrp0097p1-238 | Diabetes and Insulin | ESPE2023

MiniMed 780G Advanced Hybrid Closed Loop System Outcomes According to Pubertal Status - Awesome Study Group Real-Life Experience

Rachmiel Marianna , Lebenthal Yael , Kineret Mazor-Aronovitch Kineret , Brener Avivit , Levek Noah , Polishuk-Yakobi Talia , Tal Ben Tal , Abiri Shirli , Landau Zohar , Pinhas-Hamiel Orit

Background and aims: Achieving good glycemic control is a major challenge for adolescents with type 1 diabetes (TID). The introduction of the MiniMed 780G system, an advanced hybrid closed-loop (AHCL), that enables an automatic correction of insulin, gave hope for improved glycemic outcomes in adolescents. We assessed specific characteristics associated with glycemic measures in youth with T1D switching to Minimed 780G.Methods:</...

hrp0097p1-259 | Fat, Metabolism and Obesity | ESPE2023

Exploring the Relationship between Muscle-to-Fat Ratio and Surrogate Markers of Nonalcoholic Fatty Liver Disease in Children with Overweight and Obesity

Uretzky Adi , Zaitoon Hussein , Ben Simon Asaf , Cohen-Sela Eyal , Yackobovitch-Gavan Michal , Midlij Eyas , Borger Ophir , Interator Hagar , Amir Achiya , Moran-Lev Hadar , Brener Avivit , Lebenthal Yael

Background: We previously reported on the strong predictive value of the muscle-to-fat ratio (MFR) z-score in the development of early-onset metabolic syndrome components in children with overweight/obesity. Data on the role of the balance between muscle and fat in the development of childhood onset nonalcoholic fatty liver disease (NAFLD) are sparse. In the current study we explored the interplay between MFR and surrogate markers of NAFLD in children with ove...

hrp0098fc13.1 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2024

Defect in C-terminal alpha-amidation during Kisspeptin synthesis: a new mechanism of hypogonadotropic hypogonadism

Hung NGuyen Viet , Al Amir Ahmad Issam , Ben Rhaiem Ines , Maugenre Svetlana , Leprince Jérome , Carel Jeaan-Claude , de Roux Nicolas

The synthesis of many peptides involves several post-translational steps which converts precursors into bioactive peptide. One of these steps results in the α-amidation of the C-terminal from a glycine through a bifunctional enzyme called the peptidylglycine α-amidating monooxygenase (PAM). Although the physiological role of Kisspeptin (KP) in the control of GnRH secretion is well known, the exact molecular form of the bioactive hypothalamic KP remains elusive. By ...

hrp0098p1-236 | Fat, Metabolism and Obesity 4 | ESPE2024

Prevalence of variants in the Leptin Melanocortin 4 receptor (MC4R) pathway in an Israeli cohort of children with severe obesity and their clinical and laboratory characteristics

Ben Ami Michal , Ludar Hanna , Koren Ilana , Keidar Tal , Stern Eve , Landau Zohar , Brener Avivit , Lebenthal Yael , Wittenberg Avigail , Rachmiel Marianna , Pivko-Levy Dikla , Ben-Ari Tal , Mauda Elinor , Levek Noah , Eli Noy , Levran Neria , Uretzky Adi , Gruber Noah , Pinhas-Hamiel Orit

Background: Monogenic obesity is a rare form of obesity caused by pathogenic variants in genes implicated in the leptin–melanocortin receptor (MC4R) signaling pathway. The MC4R pathway plays a crucial role in the regulation of satiety, energy balance, and body weight. Abnormalities in the leptin–melanocortin pathway are characterized by early weight gain, hyperphagia, and severe obesity.Objective: To investig...

hrp0095p1-327 | Growth and Syndromes | ESPE2022

A comprehensive assessment of patient-reported outcome measures in children and parents of children with achondroplasia: Results from a qualitative research and mapping exercise.

D. Mathias Susan , Hoover-Fong Julie , Savarirayan Ravi , Crews Chandler , Alves Inês , Noval Susan , Haider Amer , Cho Terry , Lee Anne , H. Colwell Hilary , Muslimova Elena

Objectives: Individuals with achondroplasia (ACH) experience medical, emotional and functional detriments during their lifetime. A comprehensive research initiative was conducted to include combined concept elicitation (CE) and cognitive debriefing (CD) interviews and mapping of concepts to identify the most relevant available patient-reported outcome (PRO) measures for inclusion in studies of ACH.Methods: Combined CE/CD...

hrp0098p2-259 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

Fostering Resilience: Exploring Family Support Groups for Girls with Turner Syndrome - A Pilot Study

Shemesh-Iron Moran , Safrai Myriam , Shapira Moran , Meirow Dror , Gruber Noah

Introduction: Parents of girls with Turner syndrome (TS) are coping with various challenges associated with caring for a child with a chronic disease.Aims: Explore the logic and importance of group support for parents of girls with TS.Methods: Group support sessions for parents of girls with TS were divided into meetings regarding psychological aspects, medical aspects, and social ...