hrp0089fc12.3 | Diabetes and Insulin 2 | ESPE2018

Impact of Insulin Sensitivity and β-cell Function on the Development of Impaired Glucose Tolerance (IGT) in Obese European Children and Adolescents

Denzer Christian , Vogt Josef , Kohlsdorf Katja , von Schnurbein Julia , Wabitsch Martin

Objectives: Compared to the US, prevalence rates of T2DM in obese children are significantly lower in European countries. Data from cohorts of obese children living in the US suggest a concurrent worsening of insulin sensitivity and ß-cell function over the spectrum of glucose tolerance. If these results can be applied to European populations is currently unknown.Methods: A combination of our novel method for mathematical modelling ...

hrp0086fc8.5 | Growth: Clinical | ESPE2016

Longitudinal Study on Body Composition, Insulin Sensitivity and β-cell Function in SGA Adults from Stop of Long-term GH Treatment until 5 Years after Stop

van der Steen Manouk , Kerkhof Gerthe F. , Hokken-Koelega Anita C.S.

Background: GH treatment results in a decrease in fat mass (FM) and insulin sensitivity (Si), and an increase in lean body mass (LBM). Only limited data are available on the longitudinal changes after discontinuation of GH treatment in SGA adults, aged 21 years.Objective and hypotheses: To assess longitudinal changes in body composition (BC) and glucose homeostasis after stop of GH treatment in SGA adults.Method: 197 previously GH-...

hrp0095p1-498 | GH and IGFs | ESPE2022

A Long-Acting Growth Hormone Module For Paediatric Growth Hormone Deficiency In The Global Registry For Novel Therapies In Rare Bone & Endocrine Conditions – The GloBE-Reg LAGH Study

Miller Bradley , Savendahl Lars , Hickman Krystina , Smythe Christopher , Chen Ching , Choi Jin-Ho , Dou Xinyu , Gong Chunxiu , Hamza Rasha , Horikawa Reiko , Jorge Alexander , Faisal Ahmed S.

Introduction: Post-marketing surveillance registries provided extensive information about the safety and efficacy of daily growth hormone (GH) therapy during treatment. With the availability of novel long-acting GH (LAGH) therapies, it is important to determine whether the novel molecules or the different pattern of GH exposure lead to changes in the efficacy and safety profile. Therefore, new surveillance registries of LAGH are warranted.<p class="abstext...

hrp0095p2-254 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Intracranial beta human chorionic gonadotropin(β-hCG)-secreting germ cell tumor in a girl with central precocious puberty

Huang Meng-tian , Zheng Ru-jiang , MA Hua-mei , LI Yan-hong , Jiang Bo , Huang Li-Bin , Guo Song , Zhang Jun , Chen Qiu-Li

Background: Precocious puberty is common in boys occasionally in girls with beta human chorionic gonadotropin (β-hCG)-secreting intracranial tumors, and is reported to be peripheral precocious puberty exclusively.Object: To described a girl with intracranial β-hCG-secreting germ cell tumor(GCT) who presented with central precocious puberty(CPP).Method:<...

hrp0092fc2.5 | Bone, Growth Plate and Mineral Metabolism Session 1 | ESPE2019

Age and Gender-Specific Reference Data for High-Resolution Magnetic Resonance Based Musculoskeletal Parameters in Healthy Children and Young People

Elsharkasi Huda M. , Chen ¹Suet C. , Steell Lewis , Joseph Shuko , Abdalrahman Naiemh , Johnston Blair , Foster John E. , Wong Sze C. , Ahmed S. Faisal

Background: The need to understand the relationship between bone, muscle, and fat within the bone-muscle unit has recently gained great prominence. Although high resolution (HR) MRI is a non-invasive imaging modality that can provide this information, there is limited expertise in children and young people.Objectives: To establish MRI-based normative data for bone, bone marrow adiposity and muscle adiposity in children a...

hrp0092t20 | Top 20 Poster | ESPE2019

Molecular and Phenotypic Spectrum of Noonan Syndrome in Chinese Patients

Li Xin , Yao Ruen , Tan Xin , Li Niu , Ding Yu , Li Juan , Chang Guoying , Chen Yao , Ma Lizhuang , Wang Jian , Fu Lijun , Wang Xiumin

Background: Noonan syndrome (NS) is a common autosomal dominant/recessive disorder. No large-scale study has been conducted on NS in China, which is the most populous country in the world.Methods: Next-generation sequencing (NGS) was used to identify pathogenic variants in patients that exhibited NS-related phenotypes. We assessed the facial features and clinical manifestations of patients with pathogenic or likely patho...

hrp0092p1-225 | Growth and Syndromes (to include Turner Syndrome) (1) | ESPE2019

The Phenotypic Spectrum of Kabuki Syndrome in Patients of Chinese Descent

Wang Yirou , Li Niu , Su Zhe , Xu Yufei , Liu Shijian , Chen Yao , Li Xin , Shen Yiping , Wang Jian , Wang Xiumin , Bodamer Olaf

Background: Kabuki syndrome (KS) is a rare dominant disorder of transcriptional regulation with a complex phenotype including cranio-facial dysmorphism, intellectual disability, developmental delay, hypotonia, failure to thrive, short stature and variable cardiac and renal anomalies. Mutations in either KMT2D or KDM6A cause KS. While the phenotype of KS has been reported in many ethnicities, little is known about the phenotypic spectrum of KS...

hrp0092p2-188 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Clinical and Molecular Genetic Characterizations of Five Patients Harboring Mutations in the GNAS Gene: A Case Series and Literature Review

Li Xin , Chang Guoying , Wang Yirou , Xu Yufei , Li Guoqiang , Li Xin , Li Juan , Ding Yu , Chen Yao , Wang jian , Wang Xiumin

Objective: Inactivating mutations in the gene encoding the alpha-subunit of Gs (GNAS) gene, which consists of exons 1-13 and encodes the alpha-subunit of the stimulatory G protein (Gsa), are associated with several clinical syndromes, including pseudohypoparathyroidism (PHP), pseudopseudohypoparathyroidism (PPHP), and progressive osseous heteroplasia (POH).Method: We documented patient clinical characteristics a...

hrp0089rfc11.5 | Bone, Growth Plate &amp; Mineral Metabolism 2 | ESPE2018

The Determinants of Skeletal Fragility in Children with Type 1 Diabetes Mellitus

Chen Suet Ching , Shepherd Sheila , McMillan Martin , McNeilly Jane , McComb Christie , Foster John , Robertson Kenneth J , Wong Sze Choong , Ahmed S Faisal

Background: The pathophysiology of the increased fracture risk in Type 1 Diabetes Mellitus (T1DM) remains unclear.Objectives: Perform multimodality assessment to determine the effects of T1DM on bone health and fractures.Methods: Thirty-two children with T1DM at a median (range) age of 13.7 years (10.4, 16.7), and median HbA1c 65mmol/mol (27,100) were recruited. Serum bone alkaline phosphatase (BAP) and c-terminal telopeptide type ...

hrp0089p1-p119 | Fat, Metabolism and Obesity P1 | ESPE2018

Telemedicine Therapy for Overweight Adolescents: First Results of a Novel Smartphone App Intervention Using a Behavioural Health Platform

Heldt Katrin , Buchter Dirk , Brogle Bjorn , Chen-Hsuan Iris Shih , Ruegger Dominik , Filler Andreas , Gindrat Pauline , Durrer Dominique , Farpour-Lambert Nathalie , Kowatsch Tobias , l'Allemand Dagmar

Introduction: Despite improved therapy measures since 2014 the prevalence of overweight and obesity in Swiss adolescence stabilized on 19%. Particular challenges are lack of adherence to therapy in youth who are in difficult life situations or live further from specified centres. Therefore it is essential to find simple and novel therapeutic approaches. But although the number of digital based health information systems increases steadily, the effectiveness in reaching long te...