hrp0097rfc8.1 | Fat, metabolism and obesity 2 | ESPE2023

A novel heterozygous likely pathogenic variant in GNB1 causing hyperphagia, severe early onset obesity and neurodevelopmental disorder

Karantza Maria , Hun Seo Go , Hyun Seong-In , Lee Hane , Kitsiou Sophia , Michala Lina , Kostopoulou Eirini

The proband is a 12 yr old Caucasian European girl with grade 3 obesity, developmental delay and hyperphagia. She was born at term via an uncomplicated pregnancy and exhibited neonatal hypotonia, difficulty feeding, failure to thrive and delayed attenuation of milestones. At the age of 2 years she started developing hyperphagia and rapid excessive weight gain. Molecular analysis for Prader Willi syndrome and array CGH were negative. At the age of 10 yrs she was diagnosed with ...

hrp0097p1-97 | GH and IGFs | ESPE2023

Efficacy of long-acting growth hormone preparation in children with growth hormone deficiency

Kang Eungu , Yoojin Chung Lindsey , Rhie Young-Jun , Lee Kee-Hyoung , Nam Hyo-Kyoung

Objectives: Convenience of growth hormone (GH) use can lead to good adherence and result in satisfactory treatment outcomes. The aim of this study is to compare the long-term efficacy of weekly GH with daily GH in children with GH deficiency (GHD).Methods: Clinical data of 966 GHD children (773 treated with daily GH and 193 treated with weekly GH) were obtained from the “LG Growth Study”, which is an observat...

hrp0097p1-494 | GH and IGFs | ESPE2023

Comparison of insulin tolerance test and arginine test in the diagnosis of growth hormone deficiency in children

Kang Eungu , Jin Kim Yu , Nam Hyo-Kyoung , Lee Kee-Hyoung , Rhie Young-Jun

Background: The diagnosis of growth hormone deficiency (GHD) requires the subnormal responses to two provocation tests. This study evaluated the value of the growth hormone provocation test using arginine and insulin-induced hypoglycemia to diagnose growth hormone deficiency (GHD).Method: This study included 294 children with short stature (136 girls and 158 boys) who underwent a growth hormone provocation test using the...

hrp0097p1-110 | Growth and Syndromes | ESPE2023

Comparison of long-term height outcomes in pediatric patients with growth hormone deficiency receiving once weekly somatrogon with those of matched patients treated with once-daily somatropin in the Kabi/Pfizer International Growth Study (KIGS)

Paliwal Yuvika , Carlsson Martin , Zhang Richard , Lee Peter , Korth-Bradley Joan , Taylor Carrie , Cara Jose

Objectives: Somatrogon is a long-acting recombinant human growth hormone (GH) approved in the EU and other countries for once-weekly treatment of pediatric patients with GH deficiency (GHD). In this analysis, height outcomes of somatrogon-treated patients in a phase 3 trial (CP-4-006) were compared with historical data from matched somatropin-treated patients enrolled in KIGS.Methods: In trial CP-4-006, patients were ran...

hrp0097p2-62 | Diabetes and Insulin | ESPE2023

Growth patterns according to glycemic control, CGM apply, and diabetic complications in type 1 diabetes mellitus patients

Suh Junghwan , Kim Sujin , Lee Myeongseob , Song Kyungchul , Kwon Ahreum , Wook Chae Hyun , Kim Ho-Seong

Introduction: Chronic diseases such as type 1 diabetes mellitus (T1DM) may alter linear growth, but previous reports regarding growth in children with T1DM has been inconsistent. This study aims to investigate height and growth velocity of T1DM patients after diagnosis of diabetes and whether they are affected by various factors.Methods: This retrospective study, included 151 patients (male, 45.0%; mean age at diagnosis,...

hrp0097p2-152 | Multisystem Endocrine Disorders | ESPE2023

Clinical Characteristics of patients seropositive for any one or more of 4 serological tests of celiac disease in a Singaporean paediatric endocrinology clinic

Rhen Warren Lee Wei , Yee Leng Ng Carol , Bhalla Anoushka , Pang Leong Khai

Celiac Disease is being increasingly recognised among Asians, but the spectrum of presentation may differ from that of Caucasian populations. The clinical phenotypes of celiac disease and diseases of gluten intolerance have not been well studied in Singaporean patients. We describe the clinical, biochemical and genetic phenotype of each seropositive individuals from a single private sector paediatric endocrinology clinic in Singapore over the period 2008 to 2020. These 67 pati...

hrp0095p1-249 | Diabetes and Insulin | ESPE2022

Glycemic control and complications of type 2 diabetes mellitus in children and adolescents during the COVID-19 outbreak

Rhie Young-Jun , Eun Oh Kyeong , Jin Kim Yu , Kang Eungu , Nam Hyo-Kyoung , Lee Kee-Hyoung

Introduction: Obesity has been on the rise in children, adolescents and young adults during the Corona virus disesase-2019 (COVID-19) outbreak. Obesity is known as the main risk factor for a number of diseases including type 2 diabetes mellitus (T2DM) and more than 90 percent of T2DM patients are overweight or obese. Along with the rise in obesity during the COVID-19 pandemic, we investigated the impact of COVD-19 pandemic on type 2 diabetes in children and ad...

hrp0095p1-118 | Growth and Syndromes | ESPE2022

A background review of several generic patient-reported outcome and clinician-reported outcome measures: Selecting measures for further evaluation in a qualitative study in achondroplasia.

D. Mathias Susan , Hoover-Fong Julie , Savarirayan Ravi , Cho Terry , Lee Anne , H. Colwell Hilary , Rogoff Daniela , Muslimova Elena

Objectives: No validated achondroplasia (ACH)-specific patient reported outcome (PRO) or clinician-reported outcome (ClinRO) measures are available. A detailed review of generic PRO and ClinRO measures was performed to select relevant tools for further evaluation in a qualitative study.Methods: Published literature describing medical challenges and impacts among children with ACH was reviewed to identify important concep...

hrp0095p1-378 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Assessment Of External Genitalia Change Over Time In Boys With XY Disorder Of Sex Development (DSD)

Alimussina Malika , Kraria Loubna , McGowan Ruth , Steven Mairi , Lee Boma , Flett Martyn , O’Toole Stuart , Faisal Ahmed S

Introduction: The external masculinisation score (EMS) has been utilised as an objective numerical description of the external genitalia in undermasculinised patients with DSD in several studies. However, data on longitudinal change in EMS in the routine clinical setting are lacking.Objectives: To determine the longitudinal change in EMS and its determinants in a cohort of boys with XY DSD in one specialist centre.<p...

hrp0092p2-218 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

The Difference of Body Mass Index (BMI) Score Before and After Gonadotropin-Releasing Hormone Agonist (GnRHa) Treatment in Central Precocious Puberty Girls

Choi Yujung , Lee Seonhwa , Kim Seulki , Ahn Moonbae , Kim Shinhee , Cho Wonkyoung , Cho Kyoungsoon , Jung Minho , Suh Byungkyu

Purpose: We investigated the difference of body mass index (BMI) score before and after gonadotropin-releasing hormone agonist (GnRHa) treatment in central precocious puberty girls (CPP).Methods: Medical records of 188 girls with CPP treated with GnRHa were reviewed. All patients completed the therapy. The patients were categorized into two groups according to initial BMI; normal weight group (BMI < 85 percentile) an...