hrp0092p3-218 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Clinical Observation of Oral Testosterone Undecanoate Treatmentforchildren with 5-Alpha-Reductase Deficiency

Liu Ying , Gong Chunxiu

Objective: Clinical Observation of fifty-two patients with 5-alpha-reductase deficiency (5 - alpha-reductasedeficiency, 5α-RD) with oral testosterone undecanoate. To evaluate the efficacy and drug safety, find the optimum age of medication.Methods: Prospective self-controlled comparison methods were used to analyze the clinical data and follow-up results in sixty-nine patients who are diagnosed with 5-alpha-reductas...

hrp0089rfc10.2 | Late Breaking | ESPE2018

Non-Inferiority Clinical Trial on Gonadotropinversus Pulsatile Gonadotropin-Releasing Hormone Infusion Therapy in Male Adolescent Patient Withcongenital Hypogonadotropic Hypogonadism

Liu Ying , Gong Chunxiu

Context: We investigate the efficacy and safetyof non-inferiority clinical trial for human chorionic gonadotropin/ human menopaousal gonadotropin (HCG/HMG) versus pulsatile gonadotropin-releasing hormone (GnRH) which have not been evaluated in puberty boys with CHH.Objective: To compare the efficacy and security of two different treatments in male adolescent patient with congenital hypogonadotropic hypogonadism (CHH).Methods: For t...

hrp0082p3-d1-708 | Diabetes | ESPE2014

Clinical Significance of Typing Fulminant Type 1 Diabetes in Children and Adolescents

Wang Yi , Gong Chunxiu

Background: Fulminant type 1 diabetes (FT1D) is presented as a severe diabetes subtype among adults, however, we have no idea whether it’s worth being taken seriously among children and adolescents.Objective and hypotheses: We aim to clarify the clinical significance of the subtype. It’s supposed that we may needn’t pay special attention to the subtype.Method: Case–control study design. Data from hospitalized al...

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...

hrp0092p3-60 | Diabetes and Insulin | ESPE2019

Clinical Characteristics and Literature Review of Special Type of Diabetes Mellitus- Thiamine-Responsive Megaloblastic Anemia Syndromein Infant with Acute Ischemic Stroke

Gu Yi , Gong Chunxiu , Liang Xuejun

Background: Thiamine-responsive megaloblastic anemia syndrome(TRMA) is a rare disease characterized by diabetes mellitus, megaloblastic anemia and sensorineural hearing loss. The disease can be accompanied by attack of stroke, which are rarely reported. To analyze the clinical characteristics of a case of thiamine-responsive megaloblastic anemia with attack of stroke in our hospital and review the related literature of this syndrome in order to improve the dia...

hrp0082p1-d2-155 | Growth (1) | ESPE2014

Clinical Characteristics and Imprinting Analysis of Chinese Silver Russell Syndrome

Wu Di , Gong Chunxiu , Zhao Yang

Background: Silver Russell syndrome (SRS) is an imprinting defect disease.Objective: To study clinical characteristics and imprinting defects in Chinese children with SRS.Methods: Forty-nine SRS cases were studied retrospectively. Out of these 49 cases, 36 were available to be detected chromosome 11p15 imprinting defects and 21 cases were detected uniparental disomy of maternal chromosome 7 (UPD(7) mat).Resul...

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...

hrp0084p3-647 | Bone | ESPE2015

Vitamin D Dependent Rickets Type 1A with Genetic Analysis in Three Chinese Children

Li Wenjing , Gong Chunxiu , Wei Liya

Background: Vitamin D dependent rickets type 1A (VDDR1A) is a rare disease caused by CYP27B1 mutations which encodes vitamin D 1α-hydoxylase.Objective and hypotheses: Vitamin D dependent rickets type 1A features of three Chinese cases with CYP27B1 mutations and report the experience of medication for severe hypocalcaemia.Method: Summarise their clinical features analyse the CYP27B1 and vitamin D receptor (VDDR) mutations.<...

hrp0084p3-792 | DSD | ESPE2015

Physical Assessment and Growth Curve of 46, XY Disorders of Sex Development Children Who Aged 0–16-Years-Old

Wu Di , Gong Chunxiu , Chen Hui

Background: The growth pattern of normal children was inappropriately used to evaluate those who with DSD.Objective: To understand growth and development of the 46, XY disorders of sex development (DSD) children, drawing height, weight and BMI curve of children with 46, XY DSD at the age of 0–16.Method: The registration database was used in this study. Non- CAH 0-16 years old 46, XY DSDs were collected. Growth curves were fitt...

hrp0092p2-222 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Case Report of Syndrome of Inappropriate Antidiuretic Hormone Secretion (SIADH) Caused by Rare AVPR2 Gene Active Mutation

li wenjing , chen jiajia , sun jiapeng , gong chunxiu

Objective: The AVPR2 gene mutation usually cause nephrogenic diabetes insipidus. We report a patient who carried an active gene mutation of AVPR2 presenting persistent hyponatremia, which resembled to the syndrome of inappropriate antidiuretic hormone secretion (SIADH)Method: We describe a patient whose clinical and laboratory evaluation were consistent with hyponatremia, which hardly to be corrected to normal. After the...