ESPE Abstracts

Background and Aims: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. 21-hydroxylase deficiency (21-OHD) caused by mutations in CYP21A2 gene is the most common form of CAH. This study aims to analyze the phenotype-genotype correlation and the characteristics of gene mutation frequency of 21-OHD patients in China, helping to provide evidence for clinical practice and genetic counseling of 21-OHD patie...

Objective: To study the relationship between serum uric acid (SUA) and metabolic syndrome (MS) factors in simple obesity children.Methods: Data of 70 simple obesity children (50 boys and 20 girls, ages 10.50±3.44) and 30 age- and sex-matched children (17 boys and 13 girls, ages 9.96±2.48) with normal body mass index (BMI) were studied. Anthropometrics, SUA, lipid profiles, glucose and insulin concentration were determined. The differences of pa...

Background: In the past few years, new genes involved with familial predisposition to pituitary tumour development have been recognised, including AIP and SDHx. These factors are likely to underestimate the occurrence of familial pituitary tumour predisposition, commonly thought to account for 5% of all pituitary tumours. Furthermore, the clinical management of aggressive pituitary tumours is challenging, particularly when tumours exhibit resistance to standa...

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...

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...

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 ...

Objective: To investigate the clinical features and genetic characteristics of HRAS-associated Costello Syndrome.Method: Characteristics of clinical data and gene mutation of two cases Costello Syndrome in XX hospital were retrospectively analyzed. The related literature was searched by using search terms ‘HRAS’ or ‘Costello Syndrome’.Result: Both patients were presented with mental retardation, growth retardati...

Background: Maturity-onset diabetes of the young, type 2 (MODY2), caused by mutations in the glucokinase (GCK) gene is rare in a Chinese population.Objective and hypotheses: We report three Chinese families with MODY2 and sequenced the GCK gene to find novo mutation.Method: Three unrelated Chinese families with MODY2 and pedigrees were investigated. In Family 1, the proband was a 7-year-old girl with impaired fasting glucose (IFG) ...

Background: Excess adiposity may influence various aspects of pubertal development, including the timing of pubertal initiation and hormonal parameters during puberty.Objective and hypotheses: The aim of this study was to clarify the impact of BMI on LH secretion in response to GnRH stimulation test in girls diagnosed with central precocious puberty.Method: Girls with central precocious puberty, who underwent GnRH-stimulation test ...

Background: CHRYSTAL (Costs and Health Related qualitY of life Study for Type 1 diAbetes mellitus pediatric patients in Spain) is an observational study conducted in 2014 on a representative sample of 275 patients aged 1-17 years with Type 1 Diabetes Mellitus (T1DM) in Spain.Objective and hypotheses: One of the objectives of the study was to describe the adherence to diabetes care using the Self Care Inventory (SCI), and to compare results by HbA1c level...