hrp0097p1-215 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Clinical and genetic characteristics of primary hypoparathyroidism in children:two-center experience in China

Shen Yingxiao , Yang Wei , He Qin , Xu Xiaoqin , Huang Ke , Dong Guanping , Fu Junfen , Wei Haiyan , Wu Wei

Object: To analyze the clinical and genetic characteristics of primary hypoparathyroidism in children from two children's hospitals in China.Methods: This study includes 47 patients (26 males, 21 females), who were diagnosed with primary hypoparathyroidism in Children's Hospital of Zhengzhou University and Children's Hospital of Zhejiang University School of Medicine from January 2015 to November 2022. We ...

hrp0082p2-d3-401 | Fat Metabolism & Obesity (2) | ESPE2014

Mannose Binding Lectin and Carotid Intima–Media Thickness in Chinese Obese Children

Wu Wei , Cheng Liqing , Fu Junfen

Background: Mannose binding lectin (MBL) is an important innate immune molecule and is previously found to be related to artery damage in some diseases as SLE rheumatoid arthritis and severe atherosclerosis. However, its role in artery change is still contradictory according to different studies. We found the carotid intima–media thickness (CIMT) increased in obese children which indicated an early change of atherosclerosis.Objective and hypotheses:...

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.<...

hrp0084p3-1191 | Thyroid | ESPE2015

Audit of Thyroid Carcinoma in Children, Adolescents, and Adults

Ho Wei Li Cindy , Zacharin Margaret

Background: Thyroid carcinoma is the most common endocrine malignancy and most common secondary malignancy for childhood cancer survivors. Radiation exposure has been clearly linked to risk. Thyroid nodules in children have a high risk for malignancy, whether arising spontaneously or after radiation. Reported incidence of thyroid carcinoma after radiation is 20 times the population risk, partly due to improved long-term childhood cancer survival and more active surveillance. D...

hrp0097fc11.6 | GH and IGFs | ESPE2023

Longitudinal analysis of the risk of brain tumour recurrence or progression in relation to the timing of commencement of growth hormone replacement therapy.

Paula Gonzalez-Mereles Ana , Gan Hoong-Wei

Introduction: Growth hormone deficiency (GHD) is the most frequent endocrine deficit in childhood survivors of brain tumours. However, there is insufficient evidence to guide the timing of growth hormone replacement (GHR). At Great Ormond Street Hospital timing is based on clinical need rather than in relation to oncological treatment. Therefore, sufficient variability in GHR timing is available to analyze its effect on tumour progression and recurrence.<p...

hrp0097p1-341 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Correlation Analysis of Genotypes and Phenotypes of 91 young male paediatric patients with congenital hypogonadotropic hypogonadism

Fu Dongxia , Chen Jiajia , Wei Haiyan

Background: Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder caused by the deficient production, secretion or action of gonadotropin-releasing hormone (GnRH), which is the master hormone regulating the reproductive axis. CHH can be divided into Kallmann syndrome (KS) with dysosmia and normosmic Congenital hypogonadotropic hypogonadism (nCHH) according to the presence or absence of an olfactory disorder.Methods:</...

hrp0086p1-p606 | Growth P1 | ESPE2016

The Role of IGF-1R Gene Polymorphisms with Regard to Susceptibility to Idiopathic Short Stature Risk in the Chinese Population of Jiangxi Area

Yang Yu , Huang Hui , Yu Zhen , Wang Wei , Yang Li , Huang Wei , Xie Liling

Background: Accumulated evidence indicates that the GH-IGF-1 pathway might be one of the crucial mechanisms of ISS. Insulin-like growth factor-1 receptor (IGF-1R) is the effector molecule that regulates the cascade reaction of hormone receptors in the GH–IGF-1 axis.Objective and hypotheses: To investigate the role of IGF-1R gene polymorphisms with regard to susceptibility to Idiopathic short stature risk in the Chinese population of Jiangxi area.</p...

hrp0082lbp-d3-1010 | (1) | ESPE2014

Effect of Triptorelin 3.75 mg Subcutaneously Injection Every 6 Weeks on Adult Height in Girls with Idiopathic Central Precocious Puberty

Liang Yan , Wei Hong , Li Jie , Hou Ling , Zhang Jianling , Wu Wei , Ying Yanqin , Luo Xiaoping

Objective and hypotheses: To evaluate the long-term efficacy of triptorelin 3.75 mg subcutaneously injection every 6 weeks on final height in girls with ICPP.Method: Forty females with ICPP received triptorelin 3.75 mg every 6 weeks subcutaneously injection and reached FAH were collected. These patients were divided into two groups. Group A: GnRHa alone, n=17; group B: triptorelin+rhGH, n=23. During the treatment, height, weight, annual...

hrp0095rfc9.4 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Association of Birth Size, Dehydroepiandrosterone Sulfate and Cardiometabolic Risk Factors in Idiopathic Central Precocious Puberty Girls

Zhang Guijiao , Yu Huan , Yu Shengxu , Luo Xiaoping , Wu Wei

Background: Early timing of puberty is associated with worse cardiometabolic health in adulthood. Furthermore, birth weight (BW) is recognized to have implications for pubertal development and cardiometabolic risk factors. The study aimed to examine the independent association between birth size, dehydroepiandrosterone sulfate (DHEAS) and cardiometabolic risk factors in idiopathic central precocious puberty (ICPP) girls.Methods:<...

hrp0092t11 | Top 20 Poster | ESPE2019

Droplet Digital PCR Techniques to Detect R201 Mutations in the Mccune-Albright Syndrome

Lu Wenli , Xie Yiwen , Wang Junqi , Wang Wei

Background: MAS is a rare disorder, this syndrome is classically characterized by a triad of physical signs: cafe-au-lait skin pigmentation(SP), fibrous bone dysplasia(FD), peripheral precocious puberty(PPP). In children, the most frequent initial presentation of MAS is PPP. MAS is caused by postzygotic activating mutations at the R201 codon of the GNAS gene, leading to a state of somatic mosaicium. In MAS patients, the frequency of mutations is expected to be...