ESPE Abstracts

Combined pituitary function test is a dynamic function test used to evaluate the anterior pituitary gland in patients suspected with hypopituitarism. The test comprises insulin challenge test where intravenous insulin injection in order to induce symptomatic hypoglycemia (serum blood glucose <40mg/dL). Insufficient increase in growth hormone and cortisol after the stimulation confirms the diagnosis of growth hormone deficiency and/or adrenal function insufficiency. However,...

Background: Despite the importance of hypercholesterolemia in children, it is overlooked, and there are currently few metabolomics-based approaches available to understand its molecular mechanisms.Methods: Children from a birth cohort had their cholesterol levels measured with the aim of identifying the metabolites for the molecular biological pathways of childhood hypercholesterolemia. One hundred and twenty-five childr...

Background and aims: Juvenile-onset systemic lupus erythematosus (JSLE) is a chronic autoimmune disease affecting individuals under 18, causing multi-system impairment. Patients with JSLE exhibit more severe disease when compared to patients with adult-onset SLE. This study aimed to evaluate the prevalence of endocrine and metabolic comorbidities in patients with JSLE, and analyze the factors associated with each comorbidity.Meth...

Background: Turner Syndrome (TS) is determine by karyotype analysis marked by loss or partial loss of one X chromosome in female. Apart from the distinctive physical traits such as short stature, sexual infantilism, and low-set ears, TS patients are more susceptible to shorter life expectancy as well as various endocrine disease including autoimmune disease. Previous studies have suggested that X chromosome count variation may play a role in genetic expression...

Background: Maturity-onset diabetes of the young (MODY) represents 1-5% of all patients with diabetes mellitus (DM) and numerous genes have been found to be associated with it. While mutations of the insulin gene (INS) are better known to cause permanent neonatal diabetes mellitus, several rare disease-causing variants have also been identified in patients with MODY. Patients with INS-MODY demonstrate variable clinical phenotypes – ranging from milder fo...

Background: Vitamin D deficiency is a prevalent health concern in children, potentially leading to various health issues. Early identification of children at risk of vitamin D deficiency is crucial for timely intervention and prevention of associated complications. This study aim ed to develop a deep learning algorithm to predict the risk of vitamin D deficiency in children aged 0-12 years using simple laboratory tests.Methods:</...

Background: To construct the growth curves of body length and weight for Chinese patients from birth to 3 years with salt-wasting 21-hydroxylase deficiency (SW 21-OHD), changes in body mass index (BMI) will also be described, so as to explore the growth pattern of these special patients and guide the monitoring of early growth.Methods: The body length and weight data of SW 21-OHD patients aged 0-3 years who visited in 4 ...

Children with diabetes, and particularly those with obesity, have poor glycemic control. They are thus at higher risk of early microvascular complications. Renal tubulointerstitial markers are integral to evaluating diabetic nephropathy. Various biomarkers have been proposed, but their role in the obese pediatric population is uncertain. We investigated renal injury markers in children with diabetes, according to obesity, and determined their role as early predictors of diabet...

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 ...

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...