ESPE Abstracts

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...

Object: To raise the awareness of clinical manifestations about vasculitis-related moyamoya syndrome by summarizing the clinical characteristics of a girl with central precocious puberty, vasculitis-related moyamoya syndrome and reviewing the literature. Method: We carried on the review analysis to the patient with central precocious puberty, vasculitis-related moyamoya syndrome and reviewed the literature. Result: The bilateral breast development was the prim...

Mandibulofacial dysostosis with microcephaly (MFDM) is characteristic of multiple skeletal anomalies comprising craniofacial anomalies/dysplasia, microcephaly, dysplastic ears, choanal atresia and short stature. Loss of function mutations of EFTUD2 were previously reported in MFDM, however, the mechanism underlying EFTUD2-associated skeletal dysplasia remains unclear. Here, we identified a novel frameshift mutation of EFTUD2 in a MFDM Chinese patient...

Objective: To establish INS-1 cell iron overload model, and study the effect on iron overload, proliferation, insulin secretion, mitochondria defect and oxidative stress change.Methods: INS-1 cells were cultured with different concentrations (0 as control and 5, 10, 20, 40, 80,160,320µmol/L respectively) of ferric ammonium citrate (FAC). Labile iron pool (LIP) were calculated by detecting calcein-AM fluorescence ...

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 ...

Paraneoplastic Cushing syndrome is extremely rare. To date, there are few reported cases related to Wilms' tumor. We describe a patient who presented with Cushing syndrome and was subsequently found to have Wilms' tumor. Our patient is a 9 year-old boy, who presented with hyperphagia and excessive weight gain for 3 months. His abdomen was also progressively bigger. There was no ingestion of steroids or traditional medication. Subsequently he sought medical advice becau...

Objective: To summarize the diagnosis and treatment of a rare 46XY DSD cause: Denys-Drash syndrome.Methods: To summarize the clinical manifestations, laboratory tests, diagnosis and treatment of a rare 46XY DSD cause presenting with hemolytic uremic syndrome: Denys-Drash syndrome (WT1 mutation).Results: Female, 2 years and 4 months, were admitted to the hospital at 2018-11-7 becaus...

Objective: To know more about the etiology and mechanism of antibody-negative diabetes, screening MODY pathogenicity genes and deepening understanding of islet autoantibody-negative diabetes, so as to individualized precision treatment.Methods: A total of 31 subjects with diabetes who had negative islet autoantibodies and C-peptide ≥0.3 ng/ml were collected. Another group was the type 1 diabetes control group, After informed consent obtained patien...

Objective: To explore the value of continuous hemodiafiltration in rescuing children with severe diabetic ketoacidosis.Method: Two children with severe diabetic ketoacidosis were studied in regard to clinical manifestation, laboratory examination and treatment and of the relevant literature was reviewed.Result: Case 1 was a girl of 13 years 5 months old, who was diagnosed as ‘Type 1 diabetes mellitus, Diabetic ketoacidosis and...

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...