hrp0094p1-25 | Diabetes A | ESPE2021

Longitudinal Auxological Recovery and Reduced Neurodevelopmental Problems in Hyperinsulinaemic Hypoglycaemia

Worth Chris , Hashmi Laila Al , Yau Daphne , Salomon-Estebanez Maria , Perez-Ruiz Diego , Hall Caroline , O’Shea Elaine , Pimlott Helen , Foster Peter , Flanagan Sarah , Cosgrove Karen , Dunne Mark , Banerjee Indraneel ,

Background: Hypoglycaemia due to congenital hyperinsulinism (CHI) is the commonest cause of severe, recurrent hypoglycaemia in childhood. Previous follow up studies have focused on neurodevelopmental status which is noted to be delayed in as many as 48% of cases. There has been less emphasis on other long-term outcomes in patients with CHI. Given the requirement for high volume carbohydrate in most patients, there are concerns regarding the adverse effects on ...

hrp0098p2-123 | Fat, Metabolism and Obesity | ESPE2024

Evaluation of metabolic syndrome risk using metabolic syndrome z-score in Bardet-Biedl Syndrome patients with various genotypes

Kandemir Tugce , Tercan Ummahan , Bayrak Demirel Ozge , Tugce Yavuz Behiye , Karaman Volkan , Derya Kardelen Al Asli , Dilruba Aslanger Ayca , Yildiz Melek , Poyrazoglu Sukran , Bas Firdevs , Oya Uyguner Zehra , Darendeliler Feyza

Background: Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive, clinically and genetically heterogeneous, pleiotropic disease characterized by the immotile primary cilia, leading to an MC4R pathway impairment. In addition to syndromic features, patients present with hyperphagia, early-onset obesity, metabolic syndrome (MetS) and increased risk of type 2 diabetes. Here, we aimto describe metabolic features and MetS z-score in a group of rare BBS cases.<...

hrp0098p2-332 | Late Breaking | ESPE2024

Familial Hypercholesterolemia in Saudi Arabia: Clinical Characteristics and Mortality Rate

Alsagheir Afaf , Albitar Mohammed , Alansari Rahaf , Aljaser Alhanouf , Ali Anas , Aldamouni Maeen , Alhosainy Ziad , Mohamed Rojina , Jaamour Heba , Alhuthil Raghad , Al-hamoudi Saad , Aldayel Abdulaziz , Abdullah Ismail , Aljumaa Mohammad , Khamaj Yara , Mcrabi Ali , Alquayt Meshari

Background: Familial Hypercholesterolemia (FH) increases the risk of atherosclerosis, leading to early cardiovascular disease (CVD) and death at a younger age. Therefore, this study aims to describe the clinical characteristics of FH patients, assess the outcome of adopting reverse cascade screening, and describe the complications and rate of mortality in FH cases followed at our center.Methods & Materials: This is a...

hrp0098p1-271 | Pituitary, Neuroendocrinology and Puberty 4 | ESPE2024

The Use Of GloBE-Reg As A Global Platform For Performing Safety & Efficacy Studies Of rhGH Therapy

Alimussina Malika , Bryce Jillian , Chen Minglu , Koley Sanhita , E Al-Agha Abdulmoein , Amin Nadia , Atapattu Navoda , C Chan Kate , Chen Jiajia , Ki Chung Ying , Deyanova Yana , Fu Antony , Gong Chunxiu , Iotova Violeta , Janus Dominika , AL Jorge Alexander , Markosyan Renata , Maniatis Aristides , Seneviratne Sumudu , M Shaikh Guftar , Shepherd Sheila , JW Tack Lloyd , Wasniewska Malgorzata , WC Wong Sammy , Yu Wai Wai , Ching Chen Suet , Faisal Ahmed S

Introduction: The Global Registry For Novel Therapies In Rare Bone & Endocrine Conditions (GloBE-Reg, https://globe-reg.net/) project was launched in 2022 with the aim of supporting studies that focus on effectiveness and long-term safety of specific therapies. The project’s initial focus has been on recombinant human growth hormone therapy (rhGH) given that there are existing gaps in knowledge with the introdu...

hrp0098p3-325 | Late Breaking | ESPE2024

Prevalence and Degree of Structural Changes in Children with Growth Hormone Deficiency: A Comparative Review with Idiopathic Short Stature

Soliman Ashraf , Alyafei Fawzia , Alaaraj Nada , Ahmed Shayma , AlHemedi Noora , Elawwa Ahmed

Introduction: This chronological review of MRI studies from 1991 to 2024 ims to summarize the prevalence and degree of MRI-detected structural changes in GHD patients and compare these findings with children having Idiopathic Short Stature (ISS).Methods: Data were extracted from various studies, highlighting key changes and comparisons with ISS.Results: Studies consistently show si...

hrp0098p3-1 | Adrenals and HPA Axis | ESPE2024

Growth and Final Adult Height Outcomes in Pediatric Patients with Salt-Wasting Congenital Adrenal Hyperplasia

Hamed Noor , Soliman Ashraf , Alaaraj Nada , Ahmed Shayma , Alyafei Fawzia

Introduction: Understanding the growth outcomes and management strategies in Salt-Wasting Congenital Adrenal Hyperplasia (SW-CAH) is crucial for optimizing patient care.Objective: We review and synthesize the evidence on growth patterns and final adult height outcomes in pediatric patients with SW-CAH, focusing on the effects of different management strategies including glucocorticoid treatment, growth hormone (GH) thera...

hrp0092rfc1.4 | Diabetes and Insulin Session 1 | ESPE2019

Estimation of Mody Frequency and Prevalent Subtypes in Pediatric Patients by Targeted NGS

Salamanca Luis , Kadaoui Maria Al , Guerrero Julio , Carcavilla Atilano , Itza Nerea , Mora Cristina , Barreda Ana Coral , Dominguez Jesús , Vallespín Elena , Pozo Angela Del , Solis Mario , Aragonés Angel , Hermoso Florinda , Ramirez Joaquín , Teresa Muñoz Maria , Garzón Lucía , Rodriguez Amparo , Escribano Arantxa , Gonzalez Isabel , Campos Angel

Though up to fourteen different MODY subtypes have been so far described, there are no studies in the literature which have determined their actual frequency and prevalence in pediatric patients.Objectives: To identify the underlying molecular basis in a cohort of pediatric patients with a suspected clinical diagnosis of MODY by targeted NGS.Materials/Methods: Cohort of 60 patient fulfilling MODY c...

hrp0092p1-145 | Thyroid | ESPE2019

The Investigation of Genetic Etiology in Familial Cases with Congenital Hypothyroidism

Kardelen Al Asli Derya , Isik Fatma Büsra , Özturan Esin Karakiliç , Sözügüzel Mavi Deniz , Öztürk Ayse Pinar , Poyrazoglu Sükran , Parlayan Cüneyd , Cangül Hakan , Bas Firdevs , Darendeliler Feyza

Background: Congenital hypothyroidism(CH) is the most common neonatal endocrinological disorder in the world. Although most of the CH is sporadic, some genetic defects are responsible from the etiology. The aim of this study was to determine the genetic and etiological factors of CH.Methods: 49 patients(female;n=24), from 24 families were included in the study. The data, collected retrospectively, consisted ...

hrp0089p1-p200 | Pituitary, Neuroendocrinology and Puberty P1 | ESPE2018

PROKR2 Mutations in Patients with Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency

Najaflı Adam , Baş Firdevs , Karaman Birsen , Al Aslı Derya Kardelen , Toksoy Guven , Poyrazoğlu Şukran , Uyguner Oya , Avcı Şahin , Altunoğlu Umut , Ozturan Esin Karakılıc , Başarn Seher , Darendeliler Feyza

Background: Rokineticin receptors (PROKR1 and PROKR2) belong to the family of G protein-coupled receptors. Bi-or mono allelic mutations in PROKR2 gene have been identified in Kallmann syndrome which is characterized by hypogonadotropic hypogonadism and anosmia/hyposmia. Recently, PROKR2 mutations were reported in patients with multiple pituitary hormone (MPHD) and growth hormone deficiencies (GHD), suggesting a potential role for the PROK2 p...

hrp0098p2-357 | Late Breaking | ESPE2024

Real-world IGF-1 Variations & Its Management in Children on Recombinant Human Growth Hormone (rhGH) Therapy (RIGHT Study)

Ching Chen Suet , Alimussina Malika , Koley Sanhita , Shepherd Sheila , Eid Al-Agha Abdulmoein , Amin Nadia , Atapattu Navoda , Chen JiaJia , Deyanova Yana , Fu Antony , Højby Michael , Augusto de Lima Jorge Alexander , Iotova Violeta , Januś Dominika , Markosyan Renata , S. Miller Bradley , Savendahl Lars , Nimali Seneviratne Sumudu , Guftar Shaikh M , Shenoy Savitha , J W Tack Lloyd , Wasniewska Malgorzata , Faisal Ahmed S

Aim: Serum IGF-1 is widely advocated as a tool for monitoring adherence, safety and effectiveness of recombinant human growth hormone (rhGH). However, there is a need to understand the real-world variations in IGF-1 levels in children on rhGH and the management of abnormal IGF-1 levels in routine clinical practice.Method: Centres participating in the Global Registry for Novel Therapies in Rare Bone and Endocrine Conditio...