ESPE Abstracts

Background: Sitosterolemia (STSL) is an extremely rare genetic disease. Xanthomas as the first symptom is frequently misinterpreted as familial hypercholesterolemia (FH) in children. Inappropriate treatment may deteriorate the condition.Objectives: The goal of this study was to summarize the clinical characteristics of children with STSL who had xanthomas as their first symptom and to provide clues for early clinical dia...

Quantitative analysis of endogenous and exogenous steroid hormones is an important step for our understanding of the causes of endocrine disorders in pediatric. In this study, we developed a method to simultaneously quantify endogenous and exogenous steroids in pediatric urine and plasma. Ultra-performance liquid chromatography-tandem mass spectrometry (LC-MS/MS) was used to simultaneously quantify steroid hormones in children plasma and urine. Under the optimum conditions, th...

Background: The differential diagnosis of partial precocious puberty (PPP) and central precocious puberty (CPP) is vital to the prompt intervention and administration, but their specific biomarkers are still unavailable. The potential harmful effects of environmental factors on children's growth and development attract great concern and require urgent investigation.Objective: The metabolic differences and connection...

Objective: To summarize the clinical characteristics, genetics and follow-up data of five children with thyroid hormone resistance syndrome (RTH) and review the related literatures.Methods: The clinical data of the five children diagnosed with RTH in our hospital from 2018 to 2020 were retrospectively analyzed. Next-generation sequencing of the candidate genes related to thyroid diseases was performed using the blood col...

Background: The acid-labile subunit (ALS) is the crucial third player in the tertiary complex for its function of prolonging the half-life of the IGF1-IGFBP3 binary complexes. IGF1 and IGFBP3 are routinely determined during the diagnostic work-up for growth hormone deficiency (GHD). The aim of the study is to evaluate the relevance of serum ALS as an additional biomarker, alone or in combination with IGF1 and IGFBP3, in the diagnosis of GHD.<p class="abste...

Aims: To evaluate the performance of a factory-calibrated flash glucose monitoring system in children with diabetes compared to venous blood glucose (BG).Methods: A total of 13 hospitalized participants newly diagnosed with type 1 diabetes, aged 1~14 years old, were involved in the study. Sensor glucose measurements on days 2, 3, 6, 7, 12 and 13 of wear were compared with venous BG. During these days, the venous BG ...

Background: Zinc transporter 8 autoantibodies (ZnT8Abs) together with glutamic acid decarboxylase autoantibodies (GADAbs), insulinoma antigen 2 autoantibodies (IA-2Abs) and insulin autoantibodies (IAbs) are markers of type 1 diabetes mellitus (T1DM). We studied the prevalence of ZnT8Ab in children with autoimmune thyroid diseases (AITDs) to assess the association of AITDs and T1DM at the serological level.Methods: The st...

Background: Noonan syndrome (NS) is generally considered an autosomal dominant, multisystemic disorder caused by dysregulation of the RAS/mitogen activated protein kinase (MAPK) pathway. The latest research confirmed the existence of a form of Noonan syndrome that is inherited in an autosomal recessive pattern and identify biallelic mutations in LZTR1. In this study, we diagnosed 55 Chinese NS Children via targeted sequencing or whole exome sequencing (TS/WES).<p ...

Objective: To explore the clinical features and the genetic cause of a multiple malformation patient with short stature.Methods: The clinical data was collected in Beijing Children’s Hospital in November 2017. The disease-causing variant was identified using exome sequencing and confirmed with Sanger sequencing. Related literature was searched from Wanfang and Pubmed databases using the key word of ‘PORCN gene’ to identify the clinical fea...

Backgrounds: The treatment of diazoxide-unresponsive congenital hyperinsulinism (CHI) is a big challenge in clinical practice. Octreotide is an off-lable medicine for CHI but widely used nowadays. However, the efficacy and adverse effects have been reported varied in centers.Objective: To evaluate the efficacy and safety of the subcutaneous octreotide injection for diazoxide-unresponsive CHI in China.Subjects and methods: Diazoxide...