hrp0082p2-d3-476 | Hypoglycaemia | ESPE2014

Glucagon Secretion in Response to Hypoglycemia in Patients with Congenital Hyperinsulinism

Wang Yi , Gong Chunxiu , Su Chang

Background: Hypoglycemia triggers the secretion of counter-regulatory hormones such as cortisol, GH, and glucagon, all of which are protective mechanisms to restore euglycemia. It has been suggested that CHI patients have abnormal glucagon secretion during hypoglycemia, but the data is limited.Objective and hypotheses: To investigate the secretion of counter-regulatory hormones including glucagon during hypoglycemia. It’s supposed that these hormone...

hrp0082p2-d1-566 | Sex Development | ESPE2014

The Research About sf1 Gene Abnormality in 45 Children with Micropenis

Li Pin , Gong Yan , Zhuzhi Ying

Background: Micropenis are the most common signs of incomplete masculinisation, but do not receive enough attention. The etiology is very complex, including endocrine factors, genetic factors and environmental endocrine disruptors.Objective and hypotheses: To explore 45 cases of micropenis children steroidogenesis factor 1 genetic abnormalities and to research the influence of the mutation on sex gland function.Method: 45 micropeni...

hrp0097p2-301 | Late Breaking | ESPE2023

Progression in height and bone age during the first year of long-term growth hormone therapy in pre adolescent GHD children

Li Yan , Xinran Chen , Chunzhu Gong

Key words: growth hormone defificiency,growth hormone, height,bone ageObjective: To evaluate the height and bone age (BA) of prepubertal growth hormone deficiency (GHD) children in the first year after long-term growth hormone treatment.Methods: According to the degree of bone age lag before treatment,36 prepubertal GHD children were divided into two groups&#xF...

hrp0098fc11.5 | Fat, Metabolism and Obesity 2 | ESPE2024

Complement 3 Alleviates Obesity Hypoventilation by Inhibiting Caspase-8/GSDME-Related Pyroptosis

Sun Yan , Song Qijun , Han Linqi

Background and Purpose: Nutritional obesity is a significant health issue worldwide, and severe obesity can lead to obesity hypoventilation syndrome (OHS). However, previous studies have mainly focused on changes of mechanical respiratory function without in-depth study on damage of lung epithelial cells. This study investigates the molecular mechanism underlying obese hypoventilation.Methods: C57BL/6 mice were used to c...

hrp0098p2-164 | Growth and Syndromes | ESPE2024

Clinical and genetic analysis of ulnar-mammary syndrome caused by a novel TBX3 mutation in a Chinese boy and literature review

Yang Jianmei , Sun Yan , Li Guimei

Ulnar-mammary syndrome (UMS) is caused by TBX3 mutation and is a disorder characterized by altered limb, breast, tooth, hair, apocrine gland, and genital development. The detailed genotype-phenotype correlation of TBX3 -related diseases was analysed by the 5.5th UMS case analysis, and all reported cases of UMS were summarized and discussed.Methods: The clinical and genetic data of a boy with UMS were carefully analysed....

hrp0082p3-d2-747 | Diabetes (3) | ESPE2014

Comparison the Clinical Efficacy of Autologous Hematopoietie Stem Cell Transplantation and Traditional Insulin Therapy in Newly Diagnosed Primary Childhood Type 1 Diabetes

Yi Gu , Chunxiu Gong , Xiaoxia Peng , Liya Wei , Chang Su , Fengting Li , Yi Wang

Objective: Evaluation the clinical efficacy of autologous hematopoietie stem cell transplantation and traditional insulin therapy.Methods: This is a case–control study. The subject investigated were diagnosed primary childhood type 1 diabetes in Beijing Children’s Hospital Endocrinology Centre, and there are 14 cases did the immune intervention combined with autologous hematopoietie stem cell transplantation in other hospital during the first 3...

hrp0095p1-469 | Fat, Metabolism and Obesity | ESPE2022

Triglyceride-glucose-alanine aminotransferase index is associated with the severity of transient elastography in pediatric non-alcoholic steatohepatitis

Seo Yoon Jong , Tae Hwang Il , Hee Yi Kyung

Background: The triglyceride glucose (TyG) index is significantly associated with the presence of nonalcoholic fatty liver disease (NAFLD) and is a reliable insulin resistance (IR) surrogate marker. Alanine aminotransferase (ALT) has been commonly used to reflect liver inflammation and liver damage in patients with chronic liver diseases, including NAFLD. Transient elastography (TE) uses pulsed echo ultrasound to measure the hardness of the liver, showing exce...

hrp0092p1-372 | Growth and Syndromes (to include Turner Syndrome) (2) | ESPE2019

A Considerable Role of NPR2 Mutation in Idiopathic Short Stature: Identification of Two Novel Mutations

Hwang Il Tae , Yi KyungHee , Kim Eun Young , Yang Seung

Introduction: C-type natriuretic peptide (CNP, NPPC gene) and its receptor, natriuretic peptide receptor B (NPR-B, NPR2 gene), is critical for endochondral ossification in growth plate. Biallelic NPR2 mutations are known as acromesomelic dysplasia, type Maroteaux which is characterized by severe short stature. A monoallelic NPR2 mutation has been suggested to mildly impair long bone growth.Obje...

hrp0092p2-241 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Effect of Gonadotropin-Releasing Hormone Agonist Treatment on Final Adult Height in Boys with Idiopathic Central Precocious Puberty

Kim Eun Young , Yi Kyung Hee , Lee Jae Hee

Purpose: Central precocious puberty (CPP) is less common in boys than girls; very little data is reported on long-term effects of gonadotropin-releasing hormone analog (GnRHa) treatment in boys with CPP. The aim of the study was to evaluate the impact of treatment with GnRHa on adult height (AH) and body mass index (BMI) in boys with idiopathic CPP.Subjects and Methods: In 18 boys with confirmed diagnosis of idiopathic C...

hrp0092p3-172 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Pure Gonadal Dysgenesis with Partial Testicular Development Associated with Turner Syndrome with SRY

Hee Yi Kyung , Kim Eun Young , Han Heon Seok

Turner syndrome is the most common chromosomal disorder in girls. They present classically short stature and delayed puberty. Turner girls with 45,X karyotype show normal female external genitalia. But Turner patients containing 45,X/46,XY mosaicism, or Sex-determining Region Y(SRY) gene may have mixed gonadal dysgenesis with various external sexual differentiation or pure gonadal dysgenesis. Existence of Y chromosome particles in Turner syndrome implies that they have risk of...