ESPE Abstracts

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...

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:<...

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...

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 ...

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...

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 ...

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...

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...

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...

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...