hrp0082p3-d3-914 | Pituitary (1) | ESPE2014

The Influence of Specimen pH on Urinary LH and FSH by Immunochemiluminometric Assays

Ma Ya-Ping , Xu Zhuang-Jian , Hu Yu , Zhu Wen-Ying , Wang Qing

Background: It remains unclear whether specimen pH can influence urinary LH and FSH assayed by immunochemiluminometric assays (ICMA).Objective and hypotheses: To investigate the effect of specimen pH on urinary LH and FSH assayed by ICMA.Method: The first morning-voided urine were collected and divided into 11 samples (each 100 ml). The urine pH was determined with a pH meter. Hydrochloric acid and sodium hydroxide were added to al...

hrp0098p1-300 | Late Breaking 1 | ESPE2024

The Diagnostic and Therapeutic Monitoring Value of Morning Urinary Gonadotropins for Central Precocious Puberty in Girls with Different BMI

Xu Huijiao , Yuan Xin , Wu Wenyong , Hu Zhijian , Chen Ruimin , Luo Xiaoping

Objective: To explore the diagnostic value of morning urinary gonadotropins for assessing central precocious puberty (CPP) in girls with varying BMI and the potential use of first morning voided urinary luteinizing hormone (FMV ULH) in monitoring CPP treatment.Methods: A total of 335 precocious puberty girls were selected. Data of serum luteinizing hormone (LH), follicle stimulating hormone (FSH), gonadotropin-releasing ...

hrp0089p3-p229 | Growth & Syndromes P3 | ESPE2018

A Novel Heterozygous Pathogenic Variant in PORCN Gene Causing Focal Dermal Hypoplasia with Short Stature: Case Report and Literature Review

Wu Di , Hu Xuyun , Li Xiaoqiao , Wei Liya , Su Chang , Chen Jiajia , Qin Miao , Gong Chunxiu , Shen Yiping

Objective: To explore the clinical features and the genetic cause of a multiple malformation patient with short stature.Methods: The clinical data was collected in Beijing Children’s Hospital in November 2017. The disease-causing variant was identified using exome sequencing and confirmed with Sanger sequencing. Related literature was searched from Wanfang and Pubmed databases using the key word of ‘PORCN gene’ to identify the clinical fea...

hrp0095p1-451 | Diabetes and Insulin | ESPE2022

Maintaining insulin and medical supplies for disadvantaged people with Type 1 Diabetes in Southeast Asia during the COVID-19 pandemic

May Ng Sze , Toomey Nicholas , Manet Ban , Lin Kyaw Htun , Khambuapha, Khamtavanh , Martin Tyla , Ooi Fiona

Introduction: As COVID-19 spread across Southeast Asia (SEA) in 2020-2021, healthcare systems in Cambodia, Laos and Myanmar braced as public health officials closed many outpatient diabetes clinics and healthcare professionals (HCPS) were redeployed to COVID-treatment zones. Action 4 Diabetes (A4D) is a UK non-profit organisation that has been providing free insulin and medical supplies to LMICs in SEA since 2016. With historically limited healthcare coverage ...

hrp0095p1-117 | Growth and Syndromes | ESPE2022

The elevated levels of Fetuin-A and FGF21 are correlated with metabolic indicators in Turner syndrome

Yao Qian , Chen Ruimin , Yuan Xin , Zhang Ying , Shangguan Huakun , Lin Xiangquan , Yang Xiaohong

Objective: To find the roles of Fetuin-A and FGF21 in metabolic disorders through investigating the correlations between Fetuin-A, FGF21 with metabolic indicators in girls with Turner syndrome (TS).Methods: A cross-sectional study of TS girls ranging from 5 to18 years and age-, body mass index (BMI)- matched healthy girls were recruited from the outpatients in Fuzhou Children’s Hospital of Fujian Medical University...

hrp0095p1-124 | Growth and Syndromes | ESPE2022

Analysis of Clinical Features and Causative Genes in 48 Children with Short Stature of Unknown Etiology

Hou Lele , Lin Shaofen , Liu Zulin , Ou Hui , Zhang Lina , Huang Siqi , Meng Zhe , Liang Liyang

Objective: To analyze the clinical features and causative genes in children with undiagnosed short stature and study the causative genes in our hospital. Methods Clinical manifestations, laboratory test and whole exome sequencing (WES) results of children with undiagnosed short stature who visited pediatric endocrinology department of our hospital from January 2018 to August 2019 were analyzed retrospectively. Causative genes were classified and analyzed accor...

hrp0092p1-232 | Growth and Syndromes (to include Turner Syndrome) (1) | ESPE2019

Two Chinese Children with FBN1-Related Acromelic Dysplasia

Hou Lele , Lin Shaofen , Zhang Lina , Liu Zulin , Ou Hui , Meng Zhe , Liang Liyang

Background and Aims: Geleophysic dysplasia (GD) and acromicric dysplasia (AD) are rare skeletal dysplasia belonging to the group of acromelic dysplasia and are both characterized by severe short stature, short hands and feet, stiff joints, facial anomalies and some radiological manifestations, including delayed bone age, shortened long tubular bones and ovoid vertebral bodies. Patients with GD clinically present the characteristic "happy" facial featur...

hrp0092p3-6 | Adrenals and HPA Axis | ESPE2019

Clinical Characteristics and Etiological Diagnosis of Premature Pubarche Among 55 Children

MA Huamei , LIN Juan , ZHANG Jun , LI Yanhong , CHEN Qiuli , CHEN Hongshan , GUO Song , DU Minlian

Objective: To understand the clinical characteristics, etiological distribution and related metabolic problems of children with premature pubarche.Methods: The clinical data of 55 cases of premature pubarche were summarized. All the children were tested by ACTH stimulation test and GnRHa stimulation test, of which 17 cases were detected by CYP21A2 gene,and 16 cases of Premature Adrenarche (PA) and 14 cases of Isolated Pr...

hrp0089p2-p006 | Adrenals and HPA Axis P2 | ESPE2018

Analysis of Phenotypes and Genotypes in 84 Patients with 21-hydroxylase Deficiency

Hou Lele , Lin Shaofen , Meng Zhe , Ou Hui , Liu Zulin , Zhang Lina , Jiang Zhuannan , Liang Liyang

Background and Aims: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. 21-hydroxylase deficiency (21-OHD) caused by mutations in CYP21A2 gene is the most common form of CAH. This study aims to analyze the phenotype-genotype correlation and the characteristics of gene mutation frequency of 21-OHD patients in China, helping to provide evidence for clinical practice and genetic counseling of 21-OHD patie...

hrp0089p1-p102 | Fat, Metabolism and Obesity P1 | ESPE2018

Plasma Adropin Levels are Associated with Lipid Characteristics Amongst Children with Obesity

Chen Ruimin , Yuan Xin , Ouyang Qian , Ai Zhuanzhuan , Lin Xiangquan , Zhang Ying , Yang Xiaohong , Cai Chunyan

Objective: This study is to evaluate the association among plasma adropin, leptin, lipopolysaccharide-binding protein (LBP) levels and lipid characteristics in children with obesity.Methods: This was a cross-sectional study of children with obesity ranging from 5.5 to 12.5 years old, and age- and gender-matched children with normal weight were collected as control. Height, weight, waist circumference and hip circumference of all the participants were mea...