hrp0084p3-989 | Gonads | ESPE2015

Metabolism and Gonadal Axis of Early Menarche Girls and Girls Treated with GnRHa During Puberty

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

Background: Early menarche may be associated with diabetes, metabolic syndrome, cardiovascular disease and oligomenorrhoea in adults. While the state of metabolism and gonadal axis of early menarche girls and girls who treated with Gonadotropin-releasing hormone analogues (GnRHa) during puberty was not so clear.Objective and hypotheses: We assessed in a retrospective unicentre study the state of metabolism and gonadal axis of early menarche girls and gir...

hrp0084p3-998 | Gonads | ESPE2015

The Changes of Body Fat and Metabolic Parameters During GnRHa Treatment in Central Precocious Puberty or Early and Fast Puberty Girls

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

Background: Oestrogen has positive effect to glucose and lipid metabolism. On the contrary, leptin has negative effect to metabolism. During GnRHa treatment, the secretion of oestrogen was suppressed and its effect will fade away.Objective and hypotheses: To observe the changes of body fat and metabolic parameters of central precocious puberty (CPP) or early and fast puberty (EFP) girls who treated with Gonadotropin-releasing hormone analogues (GnRHa).</...

hrp0092p3-34 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Study of Response to Vitamin D Replacemet in North Korean Refugee Children and Korean Children

Hee Chung Myung , Hup Song Jung

Study of response to vitamin D replacemet in North Korean refugee children and Korean childrenMyung Hee Chung, MD., Ph.DDaegu Medical Center, Daegu Metropolitan city, KoreaJung Hup Song, MD., Ph.DKyungpook National university hosptal,Occupational Medicine, Public Health Dept.,Daegu, KoreaPurpose: It is well known that obesity and ...

hrp0089p3-p412 | Growth &amp; Syndromes P3 | ESPE2018

Novel Mutation of CHD7 in a Chinese Boy with Kallmann Syndrome

Yemei Song

Kallmann syndrome (KS) is a rare heterogeneous disease with hypogonadotropic hypogonadism and anosmia or hyposmia. The aim of this study is to highlight the clinical features and diagnosis of this rare event by reporting a 13-year-old Chinese boy with a novel mutation of CHD7. He presented because of short stature (−2.0 SD) for 11 years. He was born at term with a birth weight of 2.95 kg. Cryptorchidism operation was undertaken at 5 years old. He suffered from a...

hrp0082fc8.2 | Fat Metabolism | ESPE2014

MicroRNA-152 Promotes Hepatic Steatosis by Suppressing the Wnt Signaling Pathway

Xu Xiao-qin , Li Guo-hua , Ji Chen-bo , Guo Xi-rong , Fu Jun-fen

Background: Non-alcoholic fatty liver disease (NAFLD) is a common chronic liver disease in both children and adults; however, the exact pathogenesis of NAFLD remains obscure. Accumulating evidence supports the effects of miRNA in the lipid metabolism and the regulation of insulin resistance, providing a potential linkage between the miRNA and NAFLD.Objective and Hypotheses: The aims of this study were to explore microRNA (miRNA) expression profiles in NA...

hrp0092p1-263 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

Clinical and Molecular Characteristics, Genotype-Phenotype Correlation in 113 Chinese Children with SRD5A2 Gene Mutations

Fan Lijun , Gong Chunxiu , Song Yanning

Objective: Studies on 5α-reductase type 2 deficiency (5α-RD) are limited and the genotype-phenotype correlation has not been elucidated. The aim of the study was to analyze clinical and molecular characteristics, genotype-phenotype correlation in a large Chinese 5α-RD cohort.Design: Database registration study.Method: We analyzed clinical and genetic data of gene con...

hrp0092p3-195 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Changes of Serum 25OHD Levels in Girls with Different Types of Central Precocious Puberty and Clinical Significance

Xu Liya , Li Pin , Gong Yan , Guo Sheng

Department of Pediatric Endocrinology, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, ChinaAbstract Withdrawn...

hrp0086p1-p30 | Adrenal P1 | ESPE2016

Reference Intervals for the Steroid Hormones of 6 to 14 year Old Normal Male Children with LC-MS Method

Cao Bingyan , Gong Chunxiu , Guo Yongli , Wu Di

Objective and hypotheses: The purpose of this research is to establish reference intervals for the steroid hormones of 6 to14 year-old normal male children using LC-MS method; study the variation pattern of steroid hormones in terms of different ages and Tanner stages of puberty.Method: A total of 1175 male children from 6 to 14 years old from Shunyi District, Beijing, have participated in this research, with 820 children determined as normal-weight. Pre...

hrp0084p2-267 | Diabetes | ESPE2015

Glycaemic Dysregulation in Transfusion Dependent Thalassaemia Patient in a Children’s Hospital

Lim Song Hai , Lim Wilkins , Soo Thian Lian

Background: Thalassaemia patients are at risk of developing diabetes mellitus (DM) and pre-diabetes status predominantly due to iron overloading. The prevalence is 20–30% in adult patients. Age, serum ferritin, T2* magnetic resonance imaging (MRI) of the heart and pancreas volume has been found to be associated with DM. However, majority of the studies involved more adults than children.Objective and hypotheses: To establish the prevalence of glucos...

hrp0095rfc2.4 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Dysosteosclerosis is also caused by null mutations of TNFRSF11A

Kırkgöz Tarık , Ozkan Behzat , Acar Sezer , Hazan Filiz , Ikegawa Shiro , Guo Long

Dysosteosclerosis (DOS) is a rare form of dense bone disease and, short stature, recurrent fractures, optic atrophy, cranial nerve palsy, developmental delay, flattened fingernails, skin related complications, and failure of tooth eruption are the characteristic features of the disease (MIM %224300). Irregular osteosclerosis, flattened diffusely dense vertebral bodies, sclerotic skull, radiolucent sub-metaphyseal portions of the long tubular bones with sclerotic diaphysis are ...