hrp0094p1-179 | Growth Hormone and IGFs B | ESPE2021

Novel dominant negative GH receptor variants provide important insights into GH receptor physiology

Andrews Afiya , Cottrell Emily , Maharaj Avinaash , Ladha Tasneem , Williams Jack , Metherell Louise A , McCormick Peter J , Storr Helen L ,

Background: Growth hormone insensitivity (GHI) encompasses normal/elevated growth hormone (GH), low IGF-I levels and growth restriction. Non-classical/mild-moderate GHI is an emerging entity which is poorly characterised, and, in many subjects, the underlying cause is unclear. Heterozygous dominant negative (DN) variants located in the intracellular/transmembrane domain of the GH receptor (GHR) cause a ‘non-classical’ GHI phenotype.<p class="abst...

hrp0097p1-11 | Adrenals and HPA Axis | ESPE2023

Girls with Premature Adrenarche but not SGA Reach Their Target Height

Bingöl Aydın Dilek , Tin Oğuzhan , Turan Hande , Bayramoğlu Elvan , Ercan Oya , Evliyaoğlu Olcay

Introduction:Premature adrenarche (PA) is the most common cause of premature pubic and axillary hair growth before the age of 8 in girls. At the time of diagnosis, the height and bone age of the cases with premature adrenarche were determined to be higher than their peers. The long-term effects of advanced bone age on the final length of the cases are controversial. In this study, it is aimed to share the long-term follow-up data of the cases diagnosed with pr...

hrp0097p1-360 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Management of central diabetes insipidus in disabled children with diluted oral desmopressin lyophilisate formulation administered through nasogastric tube

Anıl Korkmaz Hüseyin , Bhushan Arya Ved , Gönüllü Ahmet , Coşkunol Fulya , Özkan Behzat

Background: Experience with nasogastric administration of oral DDAVP [desamino-D-arginine-8-vasopressin] lyophilisate (ODL) for central diabetes insipidus (CDI) in disabled children with swallowing coordination difficulties is limited.Objective: We aimed to assess the safety and efficacy of nasogastric use of ODL in disabled children with CDI.Methods: Clinical, laboratory and neuro...

hrp0097p2-42 | Adrenals and HPA Axis | ESPE2023

Exploring the Experiences of Parents of Children with Congenital Adrenal Hyperplasia: a study in Developing Country

Utari Agustini , Dewi Ariani Mahayu , Galih Panunggal Damianus , L Claahsen-van Der Grinten Hedi , MH Faradz Sultana , Ediati Annastasia

Keywords: Congenital Adrenal Hyperplasia, Parent’s experience, Focus Group DiscussionBackground: Congenital Adrenal Hyperplasia (CAH) leads to many unseen social burdens for parents, including ambiguous genitalia (in girls), lifelong use of medication, including stress dosing, social and psychological pressure, and stigmatization. This study aimed to investigate various lived experiences of parents caring for their...

hrp0098p1-258 | Growth and Syndromes 3 | ESPE2024

First Real-Life Data on the Use of Long-Acting Growth Hormone Somatrogon in Türkiye

Kara Cengiz , Çatlı Gönül , Çayır Atilla , Ercan Oya , Özen Samim , Darcan Şükran

Background: The long-acting growth hormone (LAGH) somatrogon has been found to be as effective and safe as daily somatotropin in the treatment of children with GH deficiency (GHD). Somatrogon administered once weekly has the potential to improve treatment adherence and height prognosis.Objective: We aimed to evaluate the first real-life data on somatrogon therapy, which was launched in Türkiye in October 2023.<p...

hrp0098p1-312 | Late Breaking 2 | ESPE2024

SGPL1 deficiency is associated with reduced lipid droplet formation and impaired steroidogenesis in Leydig cells

Kwong Ruth , J Smith Chris , Williams Jack , Asif Kanwal , L Hall Charlotte , Casas Josefina , A Metherell Louise , Prasad Rathi

Loss of function mutations in SGPL1 (sphingosine-1-phosphate lyase) are associated with a syndromic form of primary adrenal insufficiency. A third of affected male individuals also have evidence of early primary gonadal insufficiency, with an undervirilised phenotype at birth. SGPL1 carries out irreversible breakdown of the signalling molecule sphingosine-1-phosphate (S1P) and deficiency leads to accumulation of S1P and other upstream sphingolipid intermediates to var...

hrp0098p2-67 | Diabetes and Insulin | ESPE2024

Clinical Outcomes with MiniMedTM 780G Advanced Hybrid Closed-Loop Therapy In Children <7 years with Type 1 Diabetes

Gül Uslu Nihal , Ozalp Kizilay Deniz , Demir Gunay , Atik Altinok Yasemin , Darcan Sukran , Ozen Samim , Goksen Damla

Objectives: Advanced hybrid closed-loop (AHCL) therapy with the Medtronic MiniMed™ 780G system improves glycemia; however, the clinical outcomes in younger children remain less established. The evaluation of the use of the Medtronic MinimedTM 780G in children under 7 years old was aim ed.Methods: Children under 7 years old with type 1 diabetes mellitus (T1D) using MiniMed™ 780G AHCL and a control g...

hrp0098p2-379 | Late Breaking | ESPE2024

Hypothalamic obesity following craniopharyngioma surgery; what is the role of hypothalamic inflammation and gliosis?

Yurddas Doga , A.J. Nievelstein Rutger , Bison Brigitte , Hulsmann Sanne , Beckhaus Julia , L. Muller Hermann , M. van Santen Hanneke

Background: Childhood craniopharyngioma (cCP) poses significant risks of hypothalamic damage, leading to severe obesity in up to 75% of survivors. Despite hypothalamus-sparing surgical techniques, hypothalamic obesity remains a prevalent issue. We aim ed to fill a critical gap by exploring the presence of hypothalamic inflammation and gliosis following cCP surgery on MRI. In the future we will correlate our findings to subsequent hypothalamic dysfunction and o...

hrp0098p3-50 | Diabetes and Insulin | ESPE2024

The Effect of Continuous Glucose Monitoring Device Assistance on Glycaemic Control in Children and Adolescents with Type 1 Diabetes Following the 2023 Türkiye Earthquake Doublet: A Multicentre Study

Tarçın Gürkan , Ataş Nurgül , Çay Mevra , Cansu Şahin Kadriye , Trabzon Gül , Dündar İsmail , Çiçek Dilek , Gül Balkı Hanife , Manyas Hayrullah , Bitkay Abdurrahman , Celiloğlu Can , Özdemir Dilek Semine , Kılıç Sümeyra , Düzcan Kilimci Duygu , Ata Aysun , Çamtosun Emine , Mengen Eda , Karaoğlan Murat , Yüksel Bilgin , Uçaktürk Ahmet

Objective: The aimis to evaluate the effect of continuous glucose monitoring device (CGMD) assistance provided to the children with type 1 diabetes following the 2023 Türkiye earthquake compared with those that did not benefit from this assistance, as well as to investigate the changes in sensor parameters during 9-month usage of CGMD.Methods: This retrospective study included 11 centres from 7 provinces in the disa...

hrp0095ha1 | Development of Anorexigenic and Glucoregulatory Chimeric Peptides | ESPE2022

Development of Anorexigenic and Glucoregulatory Chimeric Peptides

Roth Christian , Salameh Therese , Kamat Varun , Milliken Brandon , Doyle Robert , Chichura Kylie S. , Sweet Ian , Carmen L. De Cunto , Elfers Clinton

Designing monomeric dual or triple agonists based on glucagon-like peptide (GLP)-1 with glucagon, and/or glucose-dependent insulinotropic polypeptide (GIP) are promising novel approaches for anti-obesity drugs tackling different weight-regulatory pathways, albeit such developments continue to suffer from significant gastrointestinal illnesses. Our own studies have focused instead on the combination of GLP-1 receptor agonists (GLP-1RAs) with neuropeptide Y1- and Y2-receptor (Y1...