hrp0094p2-207 | Fat, metabolism and obesity | ESPE2021

Restriction of physical activity is the main cause of childhood obesity during the COVID-19 pandemic – reflections from a study conducted in 3 clinical centers in southern Poland

Zachurzok Agnieszka , Wojcik Małgorzata , Gawlik Aneta , Starzyk Jerzy B. , Mazur Artur ,

Background: The aim of this study was to analyze the impact of the COVID-19 pandemic lockdown on behaviors and subsequent changes in BMI in children from southern Poland.Methods: The study included 206 participants (104 females and 102 males) with a complete analysis of 177 (96 females and 81 males) with a mean age of 12.8 ± 2.6 years admitted to three pediatric endocrinology clinics (Rzeszów, Kraków, and ...

hrp0094p2-319 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Rare case report: A Chinese boy with MDPL syndrome cause by POLD1 gene mutation

Chen Qiuli , Zhang Jun , Guo Song , Li Yanhong , Ma Huamei , Chen Hongshan , Chen Zhixin ,

Background: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) syndrome is a genetic disorder which was first recognized in 2010. MDPL syndrome is comprised of mandibular hypoplasia, deafness, progeroid features, lipodystrophy, hypogonadism and metabolic disorders. It is caused by an autosomal dominant mutation in the polymerase delta 1 (POLD1) gene, with <30 genetically confirmed cases to date.Cas...

hrp0097lb1 | Late Breaking | ESPE2023

Familial hCG Syndrome in two Chinese Families with elevated hCG level concurrently in blood and cerebrospinal Fluid

Huang Mengtian , Zhang Jun , Ma Huamei , Li Yanhong , Zheng Rujiang , Chen Qiuli , Liu Liulu

Background: Familial hCG syndrome is a rare and benign cause of elevated serum beta human chorionic gonadotropin (β- hCG), moreover, elevated β-hCG in cerebrospinal fluid(CSF) has never been reported in familial hCG syndrome.Object: To report the two Chinese families of familial hCG syndrome with elevated β-hCG concurrently in blood/CSF.Method: We described the clini...

hrp0097lb15 | Late Breaking | ESPE2023

Metabolic Status in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Huang Mengtian , Ma Huamei , Du Minlian , Chen Hongshan , Li Yanhong , Chen Qiuli , Zhang Jun , Guo Song

Objective: To summarize the metabolic status in children with classic congenital adrenal hyperplasia(CAH) due to 21-hydroxylase deficiency (21OHD).Methods: Children with classic 21OHD from Pediatric Endocrinology Clinics at the First affiliated hospital of Sun Yat-Sen University from January 1990 to February 2023 were included in the study. The prevalence of overweight/obesity, dyslipidemia [high triglyceride (TG), high ...

hrp0095p1-463 | Fat, Metabolism and Obesity | ESPE2022

Clinical characteristics of sitosterolemic children with xanthomas as the first manifestation

Zhang Jun , Chen Qiu-li , Guo Song , Li Yan-hong , Li Chuan , Zheng Ru-jiang , Ma Hua-mei

Background: Sitosterolemia (STSL) is an extremely rare genetic disease. Xanthomas as the first symptom is frequently misinterpreted as familial hypercholesterolemia (FH) in children. Inappropriate treatment may deteriorate the condition.Objectives: The goal of this study was to summarize the clinical characteristics of children with STSL who had xanthomas as their first symptom and to provide clues for early clinical dia...

hrp0095p1-123 | Growth and Syndromes | ESPE2022

Single center analysis of the characteristics of 24-hour ambulatory blood pressure and related factors in patients with Turner syndrome

Zheng Rujiang , Chen Hongshan , Huang Huiling , Ma Huamei , Li Yanhong , Chen Qiuli , Zhang Jun , Guo Song , Wang Bing , Du Minlian

Background and Objectives: In the patients with Turner syndrome (TS), the risk of hypertension is higher in childhood and adulthood. The aim of the study was to retrospectively analyze 24-hour ambulatory blood pressure monitoring (ABPM) in children and adolescents with TS and its related factors.Materials and Methods: A retrospective study was conducted involving TS patients admitted to our pediatric endocrine specialist...

hrp0095p1-598 | Thyroid | ESPE2022

Retrospective analysis and literature review of five cases of thyroid hormone resistance syndrome caused by THRB gene mutation

Zhang Lidan , Zhang Caiping , Chen Xiaoyan , Ye Lei , Lu Wenli , Dong Zhiya , Wang Wei , Ma Xiaoyu , Xiao Yuan

Objective: To summarize the clinical characteristics, genetics and follow-up data of five children with thyroid hormone resistance syndrome (RTH) and review the related literatures.Methods: The clinical data of the five children diagnosed with RTH in our hospital from 2018 to 2020 were retrospectively analyzed. Next-generation sequencing of the candidate genes related to thyroid diseases was performed using the blood col...

hrp0095p2-233 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Central precocious puberty in a girl with vasculitis-related moyamoya syndrome

Xie Dandan , Chen Qiuli , Ma Huamei , Jiang Bo , Li Yanhong , Zhang Jun , Guo Song , Zheng Rujiang , Chen Zhixin

Object: To raise the awareness of clinical manifestations about vasculitis-related moyamoya syndrome by summarizing the clinical characteristics of a girl with central precocious puberty, vasculitis-related moyamoya syndrome and reviewing the literature. Method: We carried on the review analysis to the patient with central precocious puberty, vasculitis-related moyamoya syndrome and reviewed the literature. Result: The bilateral breast development was the prim...

hrp0092p1-150 | Thyroid | ESPE2019

Acquired Von Willebrand's Syndrome Caused by Primary Hypothyroidism in a 5-Year-Old Girl

Flot Claire , Edouard Thomas , Tauber Maïthé , Oliver Isabelle , Claeyssens Segolene , Savagner Frederique , Caron Philippe

Background: Acquired Von Willebrand's syndrome (aVWS) associated with hypothyroidism is rare in children and more often diagnosed during the peripubertal period in the context of Hashimoto's thyroiditis.Case presentation: A 5-year-old girl was referred to the paediatric haematology unit for rectal bleeding, anaemia, and prolonged activated partial thromboplastin time. Her developmental and learning skills were no...

hrp0092p2-81 | Diabetes and Insulin | ESPE2019

A de novo Pathogenic Heterozygous Mutation of the Insulin Receptor gene in a Patient with type A Insulin Resistance Syndrome

Sun Manqing , Wang Wei , Lu Wenli , Zhang Lidan , Dong Zhiya , Xiao Yuan , Ma Xiaoyu , Ni Jihong , Wang Defen

Background: Defects of the insulin receptor gene (INSR) can cause genetic syndromes associated with a wide diverse range of congenital insulin resistance from milder insulin-resistant diabetes mellitus (Type A insulin resistance syndrome, TAIRS) to leprechaunism (Donahue syndrome). Clinical features in TAIRS vary due to the severity of damage in INSR, precise diagnosis is challenging.Materials and Methods</stron...