hrp0095p1-226 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

FGFR3 gene mutation causes hypochondroplasia via autophagy inhibition

Che Lin , Wu Jinxia , Xu Ren , Chen Jing

Background: Fibroblast growth factor receptor 3 (FGFR3) is a negative regulator of skeletal development. Gain-of-function point mutations in FGFR3 are responsible for hypochondroplasia (HCH), one of the most common forms of dwarfism in humans. Autophagy is an evolutionarily conserved catabolic process, which is indispensable for cell homeostasis maintenance and stress responses. Dysregulation at the level of autophagic activity consequently disturbs the chondr...

hrp0092p3-32 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

A Chinese Girl Suffered Both Osteogenesis Imperfecta and Mucopolysaccharidosis: Trio WES Could Tell us More

Zheng Zhangqian , Yang Lin , Lu Wei , Luo Feihong

Case: A 7-year-old female revealed short bowed femurs and humeri with old fractures and bowed tibias and fibulas. Her height was 97cm and weight was 11kg. Her younger sister had the same phenotype as same as her mother. The Trio WES test showed that they all inherited from their mother's COL1A2 gene mutation (c.928G>A; p.G328S) and diagnosed Osteogenesis Imperfecta, type IV. Unfortunately, the 7-year-old girl also presents coarse face, short neck, limi...

hrp0089p2-p089 | Diabetes & Insulin P2 | ESPE2018

A Curious Case of Persistent Lactic Acidosis in a Child with Diabetic Ketoacidosis

Sng Andrew , Ng Nicholas , Hui-Lin Chin , Lim Yvonne

Summary: An 11 year old girl with poorly controlled type 1 diabetes mellitus (T1DM) presented with persistent lactic acidosis and transaminitis despite resolution of diabetic ketoacidosis (DKA), subsequently confirmed histologically to have glycogen hepatopathy (GH). This case describes a rare but known complication of poorly controlled DM and offers some novel insights in the management of GH.Clinical case: The patient had a history of poor compliance t...

hrp0089p2-p122 | Diabetes & Insulin P2 | ESPE2018

A Young Type 1 Diabetic with Acute Hemichorea: Rare Central Nervous System Complications

Sng Andrew , Lin Jeremy , Zain Amanda , Lim Yvonne

A 20-year old lady with poorly controlled type 1 diabetes mellitus diagnosed since 9 years old, comorbidities of hyperlipidemia and steatohepatitis as well as a history of smoking, presented with an acute 2-day history of involuntary, writhing movements of her left upper and lower limbs. Physical examination confirmed left mild hemiparesis with hemichorea-athetosis. Emergent MRI brain demonstrated abnormal signal in the right caudate nucleus and lentiform nucleus (low T2W/FLAI...

hrp0082p1-d1-67 | Diabetes | ESPE2014

Protective Effects of Combined Intervention with Adenovirus Vector Mediated il10 and igf1 Genes on Endogenous Islet β Cells in Nonobese Diabetes Mice with Onset of Type 1 Diabetes Mellitus

Li Tang , Zhang Lijuan , Chen Yanyan , Li Cheng , Lin Xiaojie

Introduction: To investigate the protective effects of combined intervention with adenovirus vector mediated interleukin 10 (IL10) and IGF1 genes on islet β cells in nonobese diabetes (NOD) mice with type 1 diabetes mellitus (T1D) at early stage.Methods: Twenty-four female NOD mice at onset of diabetes and aged 17–20 weeks old were randomly divided into four groups. Mouse 1, 2, and 3 groups were i.p. injected 0.1 ml of Ad-mIGF1, Ad-mIL10, and c...

hrp0082p3-d3-871 | Growth (4) | ESPE2014

The Causes of Short Stature in Turner Syndrome

Chen Ruimin , Zhang Ying , Yang Xiaohong , Lin Xiangquan , Yuan Xin

Background: Turner syndrome (TS) is due to complete or partial deletion of an X chromosome. The most common clinical features encountered in TS patients were short stature and primary amenorrhea.Objective and hypotheses: The purpose of this study was to investigate the causes of short stature in TS.Method: 86 patients with TS were diagnosed by karyotypes from 2004 to 2013, the karyotypes distribution were as follows: 64 patients wi...

hrp0084p3-1134 | Puberty | ESPE2015

Paraphilic Compulsion Secondary to Dopamine Replacement Therapy and Successful Treatment with GnRH Analogues

Brewka Anna , Owen Tamsin , Lin Jean-Pierre , Ajzensztejn Michal

Background: Hypersexualized behaviour in the paediatric population is a rare phenomenon. The aetiology of paraphilia is not completely understood, but some studies suggest imbalance of the dopamine serotonin system. Paraphilia has also been described as a side-effect of treatment with monoaminooxidase inhibitors (MAOI) and dopamine agonists. Most of the currently used pharmacologic treatments of the paraphilias have serotonin and testosterone/dihydrotestosterone as their targe...

hrp0097fc6.5 | Pituitary, neuroendocrinology and puberty 1 | ESPE2023

Clinical characteristics of 213 children with early pubertal development complicated with pineal cyst

Yuan Shuxian , Lin Yifan , Zhao Yixuan , Chen Yongxing , Wei Haiyan

Background: Previous studies have speculated that melatonin secreted by the pineal gland plays a role in the regulation of puberty, and pineal cyst may affect its secretory function, thus causing early pubertal development. However, there are few studies on early pubertal development with pineal cyst and its clinical features are not clear. This study aims to explore its clinical features and the relationship with cyst size to further improve the understanding...

hrp0097p1-164 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Insight into Gut Microbiota of Normal Body Mass Index Girls with Idiopathic Precocious Puberty

Lin Yifan , Fu Dongxia , Yuan Shuxian , Wei Haiyan

Key words: precocious puberty; idiopathic central precocious puberty; premature thelarche; gut microbiota; HPG axisBackground: The incidence of precocious puberty and obesity has increased significantly after the COVID-19 epidemic, and the specific cause is not clear. There seems to be a causal relationship between obesity and idiopathic central precocious puberty. A few studies have shown that the changes of gut microbi...

hrp0095p1-576 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Relationship between environmental effects and metabolic characteristics of partial and central precocious puberty in girls: Understanding pathogenesis and identifying specific biomarkers

Chen Jing , Wu Jinxia , Huang Rong , Zhu Hongwei , Che Lin , Lin Yanyan , Chang Yajie , Shen Guiping , Feng Jianghua

Background: The differential diagnosis of partial precocious puberty (PPP) and central precocious puberty (CPP) is vital to the prompt intervention and administration, but their specific biomarkers are still unavailable. The potential harmful effects of environmental factors on children's growth and development attract great concern and require urgent investigation.Objective: The metabolic differences and connection...