hrp0097p2-76 | Adrenals and HPA Axis | ESPE2023

The genotype-phenotype correlations in patients with 21-hydroxylase deficiency in Henan, China and the relationship between the clinically effective dosage of hydrocortisone and CYP21A2 genotype

Yang Haihua , Wei Haiyan , Huang Ai , Chen Yongxing , Li Yangshiyu

Purpose: Identify CYP21A2 gene variants in pediatric patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency from Henan, China, and to analyze genotype-phenotype correlations. We also analyze the relationship between the clinically effective dosage of hydrocortisone and CYP21A2 genotype.Materials/Methods:A total of 214 21-OHD children were recruited in Henan children's hospital from 2008 to 202...

hrp0095p2-254 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Intracranial beta human chorionic gonadotropin(β-hCG)-secreting germ cell tumor in a girl with central precocious puberty

Huang Meng-tian , Zheng Ru-jiang , MA Hua-mei , LI Yan-hong , Jiang Bo , Huang Li-Bin , Guo Song , Zhang Jun , Chen Qiu-Li

Background: Precocious puberty is common in boys occasionally in girls with beta human chorionic gonadotropin (β-hCG)-secreting intracranial tumors, and is reported to be peripheral precocious puberty exclusively.Object: To described a girl with intracranial β-hCG-secreting germ cell tumor(GCT) who presented with central precocious puberty(CPP).Method:<...

hrp0098fc10.5 | Multisystem Endocrine Disorders | ESPE2024

Using sno-lncRNAs as potential markers for Prader-Willi syndrome diagnosis

Zou Chaochun , Sun Jiu-Ru , Yang Liang-Zhong , Dai Yang-Li , Wu Huang , Li Siqi , Xu Yifeng , Huang Youkui , Wu Hao , Shen Zheng , Chen Ling-Ling

The genetic disorder Prader-Willi syndrome (PWS) is mainly caused by the loss of multiple paternally expressed genes in chromosome 15q11-q13 (the PWS region). Early diagnosis of PWS is essential for timely treatment, leading to effectively easing some clinical symptoms. Molecular approaches for PWS diagnosis at the DNA level are available, but the diagnosis of PWS at the RNA level has been limited. Here, we show that a cluster of paternally transcribed snoRNA-ended long noncod...

hrp0098p2-161 | Growth and Syndromes | ESPE2024

Long-Term Effects of Estrogen and Growth Hormone Replacement on Mortality and Comorbidities in Turner Syndrome

Chen Jo-Ching , Chen Shao-Chia , Huang Jing-Yang , Yang Shun-Fa , Wang Chung-Hsing , Huang Yu‐Nan , Su Pen-Hua

Background: Turner syndrome (TS) is a chromosomal disorder characterized by ovarian dysgenesis, short stature, and other congenital abnormalities. This condition arises from a complete or partial loss of one X chromosome in females, often leading to delayed diagnosis and thus missing critical opportunities for timely treatment. Estrogen Replacement Therapy (ERT) and Growth Hormone Replacement Therapy (GHRT) are standard treatments, yet their long-term impacts ...

hrp0095fc4.3 | Fat, Metabolism and Obesity | ESPE2022

Impaired Brain Satiety Responses by Functional Neuroimaging After Weight Loss Therapy in Children with Obesity

Roth Christian , Melhorn Susan , DeLeon Mary , Rowland Maya , Elfers Clinton , Huang Alyssa , Saelens Brian , Schur Ellen

Background: Obesity interventions often result in increased motivation to eat after weight loss.Objective: We investigated relationships between obesity outcomes and changes in brain activation by visual food cues and hormone levels in response to obesity intervention by family-based behavioral treatment (FBT).Design, Methods, and Participants: Functional neuroimaging and plasma ho...

hrp0095p1-245 | Diabetes and Insulin | ESPE2022

Analysis of peripheral nerve conduction function and its influencing factors in children and adolescents with type 1 diabetes mellitus

Zhang Lina , Liang Liyang , Song Qingfang , Meng Zhe , Liu Zulin , Hou Lele , He Zhanwen , Huang Siqi

Objective: To explore the status and the main influencing factors of peripheral nerve conduction dysfunction in Chinese children and adolescents with type 1 diabetes mellitus (T1DM).Methods: Nerve electrophysiological indicators including amplitude, latency and conduction velocity of median nerve, ulnar nerve, superficial peroneal nerve, sural nerve, common peroneal nerve and tibial nerve were collected, and the results ...

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...

hrp0095p1-363 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Medium-and long-term follow-up observation of the efficacy and safety of GnRHa in the treatment of five cases of central precocious puberty caused by hypothalamic hamartoma

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

Background: Hypothalamic hamartoma (HH) is the most common cause of organic central precocious puberty (CPP). Gonadotropin-releasing hormone analogue (GnRHa) is widely used in the treatment of HH combined with CPP, but there is no report on the medium-and long-term efficacy and safety of HH in China.Objective: To investigate the medium-and long-term efficacy and safety of GnRHa in the treatment of children with CPP cause...

hrp0092rfc4.2 | Fat Metabolism and Obesity Session | ESPE2019

Circulating Exosomal miRNAs in Children's Nonalcoholic Steatohepatitis and the Correlation with Serum Transaminase and Uric Acid

Zhou Xuelian , Huang Ke , Ni Yan , Yuan Jinna , Liang Xinyi , Lin Hu , Dong Guanping , Fu Junfen

Background: The incidence of non-alcoholic fatty liver disease (NAFLD) in children increased rapidly paralleled with the global burden of obesity and diabetes. Although most patients are nonalcoholic fatty liver (NAFL), once progress to nonalcoholic steatohepatitis (NASH), the risk of liver fibrosis and cirrhosis increase significantly. However, the pathogenesis of NAFLD, especially how NAFL progress to NASH is still unclear. Exosomal miRNAs have attracted att...

hrp0092p1-183 | Diabetes and Insulin (1) | ESPE2019

Study on the Mechanism of Metformin in Improving PGRN-Induced Insulin Resistance of 3T3-L1 Cell

Huang Siqi , Liang Liyang , Meng Zhe , Zhang Lina , Hou Lele , Liu Zulin , Chen Hongshan

To investigate the effect of metformin on the PERK-eIF2a pathway in PGRN - induced insulin - resistant cell model. METHODS: The 3T3-L1 Insulin-resistance cell model was constructed by dexamethasone and PGRN. Metformin was used to act on the cell model to screen out the optimal concentration group for reducing PGRN,The experiment was divided into the normal control group, dexamethasone group, and PGRN group. 4-PBA and metformin were used to act respectively.Western Blot was use...