hrp0092p2-121 | Fat, Metabolism and Obesity | ESPE2019

A Non-invasive Model for Detection of the Metabolic Syndrome in Children and Adolescents

Lin Hu , Derraik José , Hong Ye , Liang Li , Gong ChunXiu , Luo FeiHong , Liu GeLi , Xiong Feng , Chen ShaoKe , Dong Guanping , Huang Ke , Wang Chunlin , Chen Xuefeng , Yuan Jinna Jinna , Fu Junfen

Objectives: We aimed to develop a non-invasive model for the detection of metabolic syndrome (MetS) in school children and adolescents.Methods: Participants were 7,330 children and adolescents aged 10–18 years attending schools in eight Chinese cities. Participants had anthropometry measured by research nurses and underwent fasting blood tests. MetS was defined as central obesity (waist-to-height ratio ≥0.46 f...

hrp0089p2-p239 | Growth & Syndromes P2 | ESPE2018

Heart and Aorta Anomalies in Turner Syndrome and Relation with Karyotype

Kardelen Aslı Derya , Darendeliler Feyza , Gencay Genco , İnce Zuhal , Aliyev Behruz , Ozturan Esin Karakılıc , Abalı Zehra Yavaş , Poyrazoğlu Şukran , Nişli Kemal , Baş Firdevs

Introduction: Turner Syndrome (TS) is known to be associated with a high risk of cardiac anomalies and cardiovascular diseases. Detailed cardiac evaluation at diagnosis and serial evaluation for dissection is warranted.Aim: This study aimed to evaluate TS patients for cardiac pathology using MRI.Methods: Clinical findings, karyotypes, echocardiogram results, cardiac MRI findings of 33 patients with TS were evaluated. Measurements o...

hrp0086p1-p338 | Gonads & DSD P1 | ESPE2016

Primary Ovarian Insufficiency in Childhood Cancer Survivors: A Report from the St Jude Lifetime Cohort (SJLIFE)

Chemaitilly Wassim , Li Zhenghong , Krasin Matthew , Wilson Carmen , Green Daniel , Klosky James , Barnes Nicole , Clark Karen , Frenandez-Pineda Israel , Metzger Monika , Ching-Hon Pui , Kirsten Ness , Kumar Srivastava Deo , Robison Leslie , Hudson Melissa , Sklar Charles , Yasui Yutaka

Background: Primary Ovarian Insufficiency (POI) and infertility are common concerns of female Childhood Cancer Survivors (CCS) and are known to impact their quality of life. Increased availability of fertility preservation techniques mandate a better understanding of risk factors for POI in this population.Objective and hypotheses: To describe the prevalence of and risk factors for POI in a cohort of adult CCS.Method: Cross-section...

hrp0086p1-p927 | Thyroid P1 | ESPE2016

Prevalence of Congenital Hypothyroidism and Thyroid Function Follow-Up of Children with Tsh Cutoff between 5 and 10 mIU/l in Neonatal Screening

Christensen-Adad Flavia Correa , Mendes-dos-Santos Carolina Taddeo , Goto Maura Mikie Fukujima , Sewaybricker Leticia Esposito , Guerra-Junior Gil , D'Souza-Li Lilia Freire Rodrigues , Morcillo Andre Moreno , Lemos-Marini Sofia Helena Valente

Objective: To determine the prevalence of congenital hypothyroidism (CH) in children with dry bloodspot TSH (b-TSH) between 5 and 10 mIU/l in neonatal screening and evaluate their thyroid function evolution.Methods: Retrospective study of thyroid function in children born from 2003 to 2010 with b-TSH between 5 and 10 mIU/l who were put on treatment in the first two years of life due to serum TSH≥10 mIU/l. The prevalence of CH ...

hrp0084fc1.6 | Adrenal | ESPE2015

An Update on Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia Using Cell-free Foetal DNA in Maternal Plasma

New Maria , Tong Yu , Jiang Peiyong , Pina Christian , Chan K C Allen , Khattab Ahmed , Liao Gary J W , Yau Mabel , Kim Se-Min , Chiu Rossa W K , Sun Li , Zaidi Mone , Lo Y M Dennis

Background: Congenital adrenal hyperplasia (CAH) arises from mutations in CYP21A2 gene, which encodes for the steroidogenic enzyme 21-hydroxylase. Currently employed chorionic villus sampling and amniocentesis provide genetic results at ~14 weeks of gestation at the earliest. At this time, the genitalia of the affected female foetuses have already become virilized. To prevent genital ambiguity, prenatal treatment with dexamethasone must begin on or before gestational ...

hrp0098rfc8.4 | Adrenals and HPA Axis 2 | ESPE2024

Rare Genetic Etiology of Primary Adrenal Insufficiency in Children; Clinical and Genetic Characterization of a Large Sudanese Cohort

Musa Salwa , Abdullah Mohamed , Hassan Samar , Fauzi Luqman , Qamar Younus , Hall Charlotte , Maitra Saptarshi , Maharaj Avinaash , Mariela Marroquin Ramirez Lucia , Read Jordan , F Chan Li , A Metherell Louise , J Smith Chris

Background: Studies of Primary Adrenal Insufficiency (PAI) from Africa are scanty while in Sudan, congenital adrenal hyperplasia (CAH) followed by Triple A syndrome are the commonest reported genetic etiologies in children. Diagnosis is challenging, especially in resource limited settings where presentation can mimic common childhood diseases and facilities for biochemical and genetic testing are restricted.Patients & Methods...

hrp0098p2-100 | Fat, Metabolism and Obesity | ESPE2024

Dysregulated adipose tissue expansion and impaired adipogenesis in Prader-Willi syndrome children before obesity-onset

Zou Chao-Chun , Chao Yun-Qi , Gao Lei , Wang Xiang-Zhi , Cai Yu-Qing , Shu Ying-Ying , Zou Xin-Yi , Qin Yi-Fang , Hu Chen-Xi , Dai Yang-Li , Zhu Ming-Qiang , Shen Zheng

Objective: PWS is a rare genetic imprinting disorder resulting from the expression loss of genes on the paternally inherited chromosome 15q11-13. Early-onset life-thriving obesity and hyperphagia represent the clinical hallmarks of PWS. The noncoding RNA gene SNORD116 within the minimal PWS genetic lesion plays a critical role in the pathogenesis of the syndrome.Methods: We collected inguinal white adipose tissues (ingWA...

hrp0098p2-151 | GH and IGFs | ESPE2024

Quality of Life and Treatment Burden of Greek children and adolescents with growth hormone deficiency

Christoforidis Athanasios , Karachaliou Fotini-Eleni , Galli-Tsinopoulou Assimina , Chrysis Dionisios , Kanaka-Gantenbein Christina , Baxevanidi Evangelia , Skiadas Ioannis , Zisimopoulou Oresteia , Tsilakis Dimitris , Poimenidou Apostolia , Vlachopapadopoulou Elpis-Athina

Pediatric growth hormone deficiency (pGHD) is a rare disorder characterized by inadequate growth hormone secretion. Recombinant human growth hormone (rhGH) is the current standard of care; however, daily injections may represent a burden to patients and caregivers, affecting patients’ health-related quality of life (HRQoL). This study evaluated the HRQoL of Greek patients receiving daily rhGH, and the burden of patients and caregivers. This cross-sectional study enrolled...

hrp0095p1-408 | Adrenals and HPA Axis | ESPE2022

Diverse clinical features, genetic etiologies, and histopathological features of adrenal neoplasms in children and adolescents

Choi Yunha , Hwang Soojin , Kim Gu-Hwan , Yoo Han-Wook , Choi Jin-Ho

Purpose: Adrenal neoplasms (ANs) are rare endocrine neoplasms in children, and etiopathogenesis and prognosis of pediatric ANs remain obscure. This study investigated clinical features, histopathological features, genetic etiologies and prognosis of ANs.Methods: This study included 33 ANs patients diagnosed from March 1997 to April 2021. Clinical features and endocrine findings were collected by retrospective medical cha...

hrp0094p2-19 | Adrenals and HPA Axis | ESPE2021

Genetic analysis of paediatric primary adrenal insufficiency of unknown aetiology over 25 years

Buonocore Federica , Maharaj Avinaash , Qamar Younus , Koehler Katrin , Suntharalingham Jenifer P. , Chan Li F. , Ferraz-de-Souza Bruno , Hughes Claire R. , Lin Lin , Prasad Rathi , Allgrove Jeremy , Andrews Edward T. , Buchanan Charles R. , Cheetham Tim D. , Crowne Elizabeth C. , Davies Justin H. , Gregory John W. , Hindmarsh Peter C. , Hulse Tony , Krone Nils P. , Shah Pratik , Shaikh Mohamad G. , Roberts Catherine , Clayton Peter E. , Dattani Mehul T. , Thomas N. Simon , Huebner Angela , Clark Adrian J. , Metherell Louise A. , Achermann John C. ,

Introduction: Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that requires appropriate diagnosis and treatment. The most common cause of PAI is congenital adrenal hyperplasia (CAH), but other well-established aetiologies include metabolic and autoimmune disorders, and physical damage. Mutations in more than 30 genes have now been associated with PAI, with considerable biochemical and phenotypic overlap. It is therefore importan...