hrp0086p2-p434 | Gonads & DSD P2 | ESPE2016

Diagnosis, Treatment and Gene Mutation Analysis of the Case with Steroid 5α-Reductase Type 2 Deficiency

Ma Xinyu

Background: To explore the reason of children on the 46,XY DSD.Objective and hypotheses: To analyze the clinical characteristics, diagnosis and management of a case with steroid 5α-reductase type 2 deficiency (SRD5A2) and perform related gene mutation analysis with a view to raising awareness of this disease.Method: A 2 year old 5 months child came with abnomal vulval shape. Karyotype was analyzed by chromosome cultivation. Gn...

hrp0089p3-p108 | Diabetes & Insulin P3 | ESPE2018

Psychosocial Risks, Comorbidities and Health Events During the Follow-up of Children and Adolescents with Type 1 Diabetes

Temboury Ma Carmen , Villamor Raquel , Hernandez Ma Belen , Lapena Sara , Lopez Cristina

Background: Psychosocial factors and health events are important for patients with chronic diseases such type 1 diabetes (TD1).Objective and hypotheses: The aim was to explore the psychosocial factors, health events and comorbidity found at diagnosis and during the follow up of children and adolescents with type 1 diabetes. Also to analyze the association between socioeconomic status and glycaemic control.Method: Medical charts of ...

hrp0086p2-p287 | Diabetes P2 | ESPE2016

Diabetic Ketoacidosis Risk Factors in the Initial Presentation of Type 1 Diabetes Mellitus in Children and Adolescents

Silva Silvia , Ferreira Lia , Aires Sofia , Freitas Joana , Oliveira Ma Joao , Cardoso Ma Helena , Borges Teresa

Background: Diabetic ketoacidosis (DKA) is the most serious acute complication of type 1 Diabetes mellitus (T1DM). It is important to know the factors associated with the development of DKA and elaborate preventive strategies to reduce their prevalence.Objective and hypotheses: To identify DKA predictive risk factors in the initial presentation of T1DM in children and adolescents.Method: We conducted a retrospective study, by analy...

hrp0095p2-225 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Clinical Characters and Prognosis of a Case With Bifocal Germ Cell Tumors in Children

Shi Xianjun , Li Yanhong , Ma Huamei , Du Minlian

Background:In children and adolescents suffered form primary intracranial germ cell tumors, bifocal GCTs are rare and were reported a bad prognosis. In this study, we report a case and summarize the clinical characteristics and prognosis.Methods: A boy suffered form bifocal GCTs (Basal ganglia and pineal region) was diagnosed in our hospital and accepted chemotherapy+radiotherapy, and was followed up.<p class="abstex...

hrp0089p2-p151 | Fat, Metabolism and Obesity P2 | ESPE2018

The Age of Pubertal Onset Correlates with Pubertal Growth Pattern and Body Weight Change in Girls

Li Yan-Hong , Du Min-Lian , Ma Hua-Mei

Background: Precocious puberty in girls may result in loss of FAH, and particularly may relates to obesity when entering adulthood. However,The influence of the timing of pubertal onset on the FAH and the change of body weight during pubertal stages is still controversial.Objective: The research is to investigate the pubertal growth pattern and the change of BMI levels in girls with ICPP and those who have normal onset of puberty but at different ages.</...

hrp0089p2-p202 | Fetal, Neonatal Endocrinology and Metabolism P2 | ESPE2018

Serum Vaspin Concentration in Full-term, Appropriate-for-Gestational-Age Newborns: Effect of Early-Onset Infections

Stojewska Małgorzata , Wiśniewska-Ulfik Dominika

Objective: Vaspin plays an important role in the foetal and postnatal development of children. The effect of early-onset infection in neonates on vaspin levels is not well known.The aim of the study: 1) evaluation of serum vaspin concentrations in full-term appropriate-for-gestational-age (AGA) newborns, according to their gender, birth asphyxia, type of delivery, occurrence of early-onset infections; 2) analysis of correlations between serum vaspin conc...

hrp0089p2-p298 | Multisystem Endocrine Disorders P2 | ESPE2018

Fanconi-Bickel Syndrome in Sudanese Children, Case Series

SA Elhassan , AM Arabi , MA Abdullah , FH Sansbury

Introduction: Fanconi-Bickel syndrome (FBS), is a rare autosomal recessive disorder of carbohydrate metabolism (FBS, OMIM 227810), caused by defects in the facilitative glucose transporter glut-2, which transports glucose in and out of hepatocytes, pancreatic β cells and basolateral membranes of intestinal and renal epithelial cells. Characteristic features include growth failure, hepatomegaly, glucose and galactose intolerance, fasting hypoglycemia, and renal tubular nep...

hrp0082p3-d1-762 | Fat Metabolism &amp; Obesity | ESPE2014

A Rare Case of Sea-Blue Histiocytosis Associated with Niemann–Pick Disease Type B in a 8-year and 9-month Old Boy with Hypertension

Ma Hua-mei , Su Zhe , Li Yan-hong

Background: Sea-blue histiocytosis is a morphological finding that can be associated both with acquired conditions of increased cellular turnover and inborn errors of lipid metabolism.Objective and hypotheses: To present a Chinese boy of hypertension and sea-blue histiocytosis secondary to Niemann–Pick disease type B.Methods: Diagnosis was confirmed by the bone marrow aspiration and the specific enzyme assay of leukocytes (def...

hrp0084p2-245 | Diabetes | ESPE2015

Association of Ghrelin Levels and Insulin Resistance in Small for Gestational Age Rats

Liu Wangkai , Shen Zhenyu , Du Minlian , Zhuang Siqi , Ma Huamei

Background: Because ghrelin is closely linked to insulin resistance and type 2 diabetes mellitus in adults, ghrelin might also participate in the development and progression of pathological changes in insulin resistance in SGA infants.Objective and hypotheses: This study aimed to determine insulin sensitivity index (ISI), variation in ghrelin levels, and their relationship in small for gestational age (SGA) rats.Method: The SGA ani...

hrp0084p2-522 | Puberty | ESPE2015

Effect of Specimen Repeated Freeze-Thaw Cycles on Urinary Gonadotropin Determined by Immunochemiluminometric Assays

Ma Yaping , Xu Zhuangjian , Hu Yu , Zhu Wenying , Wang Qing

Background: It remains unclear whether specimen repeated freeze-thaw cycles can influence urinary lutenising hormone (LH) and follicular stimulating hormone (FSH) assayed by immunochemiluminometric assays (ICMA).Objective and hypotheses: To investigate the effect of specimen repeated freeze-thaw cycles on urinary LH and FSH determined by ICMA.Method: The first morning-voided urine was collected and divided two parts. One part was s...