hrp0092p1-232 | Growth and Syndromes (to include Turner Syndrome) (1) | ESPE2019

Two Chinese Children with FBN1-Related Acromelic Dysplasia

Hou Lele , Lin Shaofen , Zhang Lina , Liu Zulin , Ou Hui , Meng Zhe , Liang Liyang

Background and Aims: Geleophysic dysplasia (GD) and acromicric dysplasia (AD) are rare skeletal dysplasia belonging to the group of acromelic dysplasia and are both characterized by severe short stature, short hands and feet, stiff joints, facial anomalies and some radiological manifestations, including delayed bone age, shortened long tubular bones and ovoid vertebral bodies. Patients with GD clinically present the characteristic "happy" facial featur...

hrp0092lb-24 | Late Breaking Posters | ESPE2019

Abdominal Adiposity and Total Body Fat as Predictors of Cardiometabolic Health in Pre-Pubertal and Pubertal Youth

Jin Binghan , Derraik José G B , Fu JunFen , Lin Hu , Yuan Jinna , Dong Guanping

Objective: We aimed to investigate the usefulness of abdominal adiposity and total body fat as predictors of cardiometabolic health, especially insulin sensitivity, in children and adolescents.Methods: Participants were 479 children and adolescents with obesity (322 boys and 157 girls) aged 3 to 18 years attending the Children's Hospital at Zhejiang University School of Medicine (Hangzhou, China). Participants underw...

hrp0089p2-p006 | Adrenals and HPA Axis P2 | ESPE2018

Analysis of Phenotypes and Genotypes in 84 Patients with 21-hydroxylase Deficiency

Hou Lele , Lin Shaofen , Meng Zhe , Ou Hui , Liu Zulin , Zhang Lina , Jiang Zhuannan , Liang Liyang

Background and Aims: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. 21-hydroxylase deficiency (21-OHD) caused by mutations in CYP21A2 gene is the most common form of CAH. This study aims to analyze the phenotype-genotype correlation and the characteristics of gene mutation frequency of 21-OHD patients in China, helping to provide evidence for clinical practice and genetic counseling of 21-OHD patie...

hrp0089p3-p188 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Weight Outcome in Infants with Prolonged Hyperinsulinemic Hypoglycemia Treated with Diazoxide vs Those with Spontaneous Resolution

Chandran Suresh , Rajadurai Victor Samuel , Yi Chng Hui , Jinjie Lin , Lim Joyce , Peng Fabian Yap Kok

Background: In newborns, physiological transition of glucose metabolism is typically completed within 48–72 h of life, yet prolonged hyperinsulinemic hypoglycemia (HH) beyond 5d of life is not uncommonly encountered, especially in infants at-risk of hypoglycemia. Management includes intravenous dextrose while awaiting spontaneous resolution (SR) of HH or Diazoxide (DZX) therapy. Since DZX acts by suppressing insulin release, concerns arise whether weight gain in infancy w...

hrp0089p2-p219 | GH & IGFs P2 | ESPE2018

Baseline Demographics of the TransCon GH Phase 3 heiGHt Trial

Beckert Michael , Karpf David B , Shu Aimee , Lin Zhengning , Leff Jonathan A

Background: TransCon GH is a novel sustained-release recombinant human GH (somatropin) prodrug in development for children with GH deficiency (GHD). It is designed to release unmodified GH and intended to provide comparable efficacy, safety, tolerability, and immunogenicity to daily GH with once-weekly dosing. Based on results from a phase 2 trial, which demonstrated comparable efficacy (annualized height velocity for TransCon 0.21 mg GH/kg per week of 12.9 cm/year vs 11.6 cm/...

hrp0086p1-p217 | Diabetes P1 | ESPE2016

Hemolysis in a Girl with Type 1 Diabetes Mellitus and Glucose-6-Phosphate Dehydrogenase Deficiency

Hou Lele , Lin Shaofen , Liang Liyang , Meng Zhe , Zhang Lina , Liu Zulin

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a X-linked enzymopathy. Hemolysis during type 1 diabetes mellitus (T1DM) treatment in patients with G6PD deficiency has been reported, but the underlying pathogenesis is not fully clarified.Objective and hypotheses: We try to explore the association between the two diseases.Method: We report a girl in whom hemolysis occurred after diabetic ketoacidosis (DKA) treatme...

hrp0082fc13.3 | Thyroid | ESPE2014

Overexpression of Supressor Tumoral PTEN, but not DREAM, was Detected in Multinodular Goiter in Humans

Shinzato Amanda , Lerario Antonio M , Danilovic Debora S , Marui Suemi , Lin Chin J , Trarbach Ericka B

Background: A high proliferative status of thyroid follicular cells and goiter were observed in mutants mice with Pten−/− or Dream overexpression. In humans, patients with Cowden disease have goiters or other thyroid abnormalities associated with germ-line PTEN mutations.Objective and Hypotheses: The aim of this study was to investigate the tissue expression of PTEN and DREAM, as well as germ-line ...

hrp0082p1-d1-236 | Thyroid | ESPE2014

Genome-Wide Promoter Methylation Analysis in Cytologically Indeterminate Thyroid Nodules

Trarbach Ericka B , Shinzato Amanda , Lin Chin J , Marui Suemi , Lerario Antonio M

Background: Differentiating potentially malignant thyroid nodules among those undetermined by cytology avoid unnecessary surgical procedures. Aberrant DNA methylation is ubiquitous in human cancers, including thyroid tumors. Biomarkers based on methylation profiles have been successfully used to diagnose early stage malignancy in many human cancers.Objective and hypotheses: To determine the genome-wide promoter methylation status of cytologically indeter...

hrp0094p2-257 | Growth hormone and IGFs | ESPE2021

Investigating the impact of the TuiTek patient support programme, designed to support caregivers of children prescribed recombinant human growth hormone treatment for growth hormone deficiency in Taiwan: A pilot study

Su Pen-Hua , Lin Yen-Fan , Jheeta Amrit , Su Su-Huei , Koledova Ekaterina , Graham Selina ,

Background: Poor adherence to recombinant human growth hormone (r-hGH) treatment presents a significant barrier to achieving optimal growth outcomes. It is important to identify and address the treatment adherence-related needs of children prescribed r-hGH, and develop new approaches to improve adherence. In this study, we aimed to measure the impact of the TuiTek patient support programme, a multi-component personalised service intervention, on caregivers&#14...

hrp0097rfc6.1 | Pituitary, neuroendocrinology and puberty 1 | ESPE2023

Clinical application of LH cut-off value in the diagnosis of CPP according to the international consensus

Lin Yifan , Zhang Yingxian , Fu Dongxia , Yuan Shuxian , Hou Yuwei , Wei Haiyan

Keywords: Central precocious puberty; Luteinizing hormone; Precocious puberty Gonadotropin-releasing hormone agnosit testBackground: 2019 International consensus on central precocious puberty (CPP) proposed that random serum luteinizing hormone (LH) ≥0.83IU/L and < 0.2IU/L has important reference value for the establishment or exclusion of CPP, but there is no corresponding diagnostic criteria in China. This study ...