hrp0089p3-p263 | Growth & Syndromes P3 | ESPE2018

A Patient with Turner Syndrome (45X/46XX) and Congenital Adrenal Hyperplasia

Wang Yirou , Ding Yu , Chang Guoying , Chen Yao , Shen Yiping , Wang Xiumin , Wang Jian

An association between Turner syndrome (TS) and Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency is rare. TS is caused by partial or complete loss of the second sexual chromosome which leads to genital system malformation and infertility. 21-hydroxylase deficiency is a well-known cause of disorder of sexual development in genotypic female neonates.The aim of our study is to report this patient and stress this rare possibility. A 8-month-old patient sufferi...

hrp0082p2-d3-313 | Bone (2) | ESPE2014

Osteogenesis Imperfecta Type I Caused by a Novel Mutation in the Start Codon of the COL1A1 Gene in a Korean Family and the Course of Pamidronate Treatment for 1 Year

Cho Sung Yoon , Jin Dong-Kyu , Yu Jae-Hong , Han Heon-Seok

Background: A 3-year-old boy appeared healthy at birth and did not experience any fractures until 12 months of age. Blue sclera, frequent fractures without adequate trauma, nearly normal stature, the absence of dentinogenesis imperfecta, no bony deformity, and no limitation of mobility were characteristics suggestive of OI type I that were observed in the patient. The patientÂ’s mother had blue sclera and a history of frequent fracture episodes until the age of 15 years.</...

hrp0082p3-d3-729 | Diabetes (2) | ESPE2014

Prevalence of Secondary Diabetes and Related Factors in China Hospitalized Children

Yu-Chuan Li , Bing-yan Cao , Chun-xiu Gong , Xue-jun Liang

Background: Secondary diabetes in children, often rising from the treatment of the primary disease. However, not enough attention has been paid. We analyze the cases of secondary diabetes in children identified from 2002 to 2010 in our hospital for the frequency and clinical features, so as to gain a better understanding of the disease.Objective and hypotheses: To investigate the prevalence and association factors of secondary diabetes in Chinese hospita...

hrp0084p3-907 | Fat | ESPE2015

The Correlation Study on Childhood Obesity, Insulin Resistance and Androgens

Xiong Feng , Zhang Yu-Qing , Ding Xiao-Yan , Wang Dong-Gang , Zhu Min

Background: Adolescent hyperandrogenemia is prophase of polycystic ovary syndrome. Obesity is one important cause of hyperandrogenemia. Whether hyperandrogenemia has happened in obese children is need to explore.Aims and objectives: To investigate the levels of insulin and androgens in obese children, analysis the correlation between insulin resistance and androgens, and comparison on the differences of androgens levels between obese boys and girls, and ...

hrp0084p3-1137 | Puberty | ESPE2015

Age of Menarche and Near Final Height after Long-Term Use of GNRH Agonist or Combined with GH in Idiopathic Central Precocious Girls

Gyon YunHee , Yun Yeong Ju , Han Heon-Seok , Kim Yong-Dae , Yu Jae-Hong

Background: The use of GnRHa in central precocious puberty is known to slow puberty progression, subsequently prevent early menarche, and attenuate the height loss by advanced skeletal maturation. But enhancing the final height was so controversial that an additional approach has been used.Objective and hypotheses: To investigate the age of menarche, and the height outcomes in central precocious girls treated with GnRHa (n=61) or combined GH (<e...

hrp0097p1-494 | GH and IGFs | ESPE2023

Comparison of insulin tolerance test and arginine test in the diagnosis of growth hormone deficiency in children

Kang Eungu , Jin Kim Yu , Nam Hyo-Kyoung , Lee Kee-Hyoung , Rhie Young-Jun

Background: The diagnosis of growth hormone deficiency (GHD) requires the subnormal responses to two provocation tests. This study evaluated the value of the growth hormone provocation test using arginine and insulin-induced hypoglycemia to diagnose growth hormone deficiency (GHD).Method: This study included 294 children with short stature (136 girls and 158 boys) who underwent a growth hormone provocation test using the...

hrp0098p1-298 | Late Breaking 1 | ESPE2024

The severity and correlates of depressive symptoms in adolescents with obesity compared to normal adolescents in Hong Kong using a validated Patient Health Questionnaire-9 screening tools

Fei Geoffrey Yu Chek , Wong Wilfred , Man Yip Ka , Shan See Wing

Objective: To evaluate the severity and the correlates of depressive symptoms in adolescents with obesity comparing to normal adolescents in Hong Kong using a validated screening tools: Patient Health Questionnaire-9 (PHQ-9) for age 11-17 in Hong Kong.Methods: In this prospective and retrospective cross-sectional study. We recruited 840 adolescents, including 306 adolescents with obesity from clinic and local schools. We...

hrp0098p2-130 | Fat, Metabolism and Obesity | ESPE2024

Genetic etiology and clinical phenotype of childhood obesity based on whole exon sequencing technology

Yang Yu , Huang Hui , Liang Yiwei , Yang Li , Xie Liling , Zhang Dongguang

Objective: This study investigated the genetic etiology and clinical phenotype of non-syndromic childhood and adolescent obesity.Methods: A total of 392 non-syndromic obese children aged 7-14 years old who were hospitalized in Department of Endocrinology. Whole exon sequencing was used to screen the potential genetic causes and analyze CNV and 79 reported obesity candidate genes.Results:</s...

hrp0086p1-p221 | Diabetes P1 | ESPE2016

Continuous Glucose Monitoring and Hypoglycemia Unawareness in Children and Adolescents with Type 1 Diabetes

Demir Gunay , Ozen Samim , Cetin Hafize , Darcan Sukran , Goksen Damla

Background: Seeking strict normoglycemia in type 1 diabetes mellitus increases the risk of hypoglycemia, exposing to hypoglycemia unawareness. Hypoglycemia unawareness (HU) is defined as the occurrence of hypoglycemic symptoms directly without autonomic symptoms. This study is designed to determine the incidence of HU in children and adolescents with continuous subcutaneous glucose monitoring system and to assess the effect of structured education to improve awareness.<p c...

hrp0092p1-277 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

New Insights from Unbiased Panel and Whole-Exome Sequencing in a Large Chinese Cohort with Disorders of Sex Development

Xu Yufei , Wang Yirou , Li Niu , Yao Ruen , Li Guoqiang , Li Juan , Ding Yu , Chen Yao , Huang Xiaodong , Chen Yuling , Qing Yanrong , Yu Tingting , Shen Yongnian , Wang Xiumin , Shen Yiping , Wang Jian

Context: Diagnosis of non-chromosomal type disorders of sex development (DSD) has long been challenging. There is still no research on overview of a large Chinese DSD cohort.Objective: To determine the etiologic diagnosis through unbiased large-scale panel sequencing and whole-exome sequencing (WES) within a large Chinese DSD cohort.Design: Patients were recruited according to the ...