hrp0098p3-91 | Fat, Metabolism and Obesity | ESPE2024

Orthopedic manifestations in children with Prader-Willi syndrome

Zou Chaochun , Miao Miao , Zhao Guoqiang , Zhou Qiong , Chao Yunqi

Background: Prader-Willi syndrome (PWS) is a rare genetic disease often associated with bone problems, mainly scoliosis and hip dysplasia (HD). This study aim ed to analyze the clinical characteristics of orthopedic deformities in patients with PWS.Methods: A retrospective study was conducted on 175 patients up to March 2023. The Cobb angle(CA) of the spine, the alpha angle of the hip joint, and the acetabular index (AI)...

hrp0086p2-p56 | Adrenal P2 | ESPE2016

The Effect of Anti-TNF on the Metabolism of Adrenal Hormones; A Steroid Metabolomic Approach

Keinan Ariel , Hartmann Michaela F. , Butbul Yonatan , Wudy Stefan A. , Tiosano Dov

Background: Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease seen in children. The systemic features of JIA are mediated by cytokine products of an activated immune system. Recent studies showed that the median level of urine cortisol in active JIA patients is significantly lower than remission period and control groups.Objective and hypotheses: One of the najor drugs in JIA is TNFα blocker (Enbrel). The aim of the study was ...

hrp0095p1-394 | Thyroid | ESPE2022

Analysis on the influencing factors of neonatal serum FT3, FT4 and TSH

Zhang Cong , Zheng Rongxiu , Ma Shifeng , Wu Chushan , Liu Xiaoxiao , Cheng Siqi , Zhao Yue , Jiang Haiyan

Background: With the increasing survival rate of extremely premature infants, neonatal thyroid dysfunction is more frequently observed clinically. Despite the guidelines, the timing of screening for neonatal thyroid function remains controversial, especially for premature infants. At present, there is no unified standard for serum FT3, FT4 and TSH levels of newborns of different gestational ages and postnatal days.Objective:</str...

hrp0092p1-90 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Quality of Life in Caregivers of Young Children with Prader-Willi Syndrome

Mao Shujiong , Shen Jian , Yang Lili , Yang Rongwang , Zou Chaochun , Zhao Zhengyan

Objective: This study was to measure quality of life (QOL) of the primary caregivers for young children with Prader-Willi syndrome (PWS).Methods: The children with PWS consisted of 32 children. The QOL of the caregiver for each patient was assessed using the Chinese version of the WHOQOL-BREF, and the Infants-Junior Middle School Students' Social-Life Abilities Scale was used to evaluate the social adaption capacity ...

hrp0092p2-95 | Diabetes and Insulin | ESPE2019

Diabetes Mellitus, Severe Acanthosis Nigricans and Short Stature: a Rare Association in Chinese Children

Zhang Miaoying , Pei Zhou , Xi Li , Zhao Zhuhui , Li Xiaojing , Wu Bingbing , Luo Feihong

Objectives: To report a case of concomitance of diabetes mellitus, severe acanthosis nigricans, short stature in a 6-year boy.Methods: Retrospective review of medical records of a patient with diabetes, acanthosis nigricans and short stature followed at the Departments of Endocrinology and Metabolism, Children's Hospital of Fudan University. This rare case was undergoing whole exome sequencing....

hrp0092p2-246 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Comparison of Growth Status, Level of Blood Glucose and Lipid Metabolism in SGA and AGA Girls with Central Precocious Puberty

Yang Xi , Yu Xiao , Zhao Yue , Luo Xiaoping , Liang Yan , Wu Wei , Ying Yanqin , Hou Ling

Background: Several studies have shown that born small for gestational age (SGA) children have earlier precocious puberty, progress faster, and are less likely to gain target height in adults than children born appropriate for gestational age (AGA). Moreover, SGA children are more prone to metabolic disorders - obesity, diabetes and cardiovascular disease.Objective: To compare the physical development status, serum lipid...

hrp0089p2-p063 | Diabetes &amp; Insulin P2 | ESPE2018

Detection of the Pathogenic Genes in the Diagnosis and Treatment of Hyperglycemia Infants and Children

Zhao Zhuhui , Cheng Ruoqian , Xi Li , Li Xiaojing , Zhang Miaoying , Pei Zhou , Sun Chengjun

Objectives: To explore the clinical value of common pathogenic gene detection in the diagnosis and treatment in hyperglycemia infants and children.Subjects and Methods: Subjects were in-patients with hyperglycemia, age of onset before 1 year-old, or insulin antibody negative and with family history of diabetes. Gene sequencing for ABCC8, KCNJ11, INS and GCK were performed and potential mutations were analyzed. The pati...

hrp0089p3-p110 | Diabetes &amp; Insulin P3 | ESPE2018

Diabetes Mellitus, Autoimmune Hemolytic Anemia, Hepatosplenomegaly and Lymphadenopathy: A Rare Association in Chinese Children

Zhang Miaoying , Li Xiaojing , Xi Li , Zhao Zhuhui , Cheng Ruoqian , Wu Bingbing , Luo Feihong

Objectives: To report a case of concomitance of diabetes mellitus, autoimmune hemolytic anemia, hepatosplenomegaly and lymphadenopathy in a 7-year girl.Methods: Retrospective review of medical records of a patient with multiple autoimmune diseases followed at the Departments of Endocrinology and Metabolism, Children’s Hospital of Fudan University. This rare case was undergoing whole exome sequencing.Results: This girl 2 year w...

hrp0089p3-p359 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Long-Term Follow-up in a Chinese Child with Lipoid Congenital Adrenal Hyperplasiadue to STARmutation

Zhao Xiu , Liu Xia , Wang Li , Pan Lili , Zhang Longjiang , Su Zhe

Congenital lipoid adrenal hyperplasia (CLAH) is the most severe and extremely rare form of congenital adrenal hyperplasia (CAH). The typical features include 46, XY disorder of sex development (DSD), early-onset adrenal crisis and enlarged adrenal with fatty accumulation. We reported a case of congenital lipoid adrenal hyperplasia (CLAH) caused by steroidogenic acute regulatory protein (STAR) gene mutation. The patient had typical early-onset adrenal crisis at the age of 2 mon...

hrp0082p3-d3-913 | Pituitary (1) | ESPE2014

Follow Up for Adult Height of Girl with the Onset of Puberty at 6 or 7 Years Old

Xu Zhuang-Jian , Ma Ya-Ping , Zhao Jin-Ling , Zhang Jian-Mei , Xia Bing-Yang

Background: It is not yet clear whether the adult height (AH) is affected by the onset of puberty at 6 or 7 years old in girl in China.Objective and hypotheses: To evaluate AH in girl with the onset of puberty at 6 or 7 years old.Method: The standard of AH in girl was considered that their bone ages were equal to (or greater than) 15 years old or they were at least 3 years post-menarche. Eighty-two girls with the onset of puberty a...