ESPE Abstracts

Background: Lanreotide, a prolonged-release somatostatin analogue, has been utilized off-label for nearly a decade to treat cases of congenital hyperinsulinism (CHI) that do not respond to diazoxide. Acute side-effects of Lanreotide include diarrhoea and topical allergic reactions. Long-term effects include hepatitis, gallstones, growth suppression, hypothyroidism and gastrointestinal dysmotility. However, limited number of case series have documented the long...

Background: 46, XY female disorders of sex development (46, XY female DSD) are congenital conditions caused by abnormal gonadal development or in androgen synthesis or action. Genes play an important role in DSD, but mechanisms are not clear. This study identified a Chinese family with the 46, XY female DSD caused by the CUL4B gene.Method: s: The proband medical history and pedigree were investigated. Variants analysis w...

Objective: PWS is a rare genetic imprinting disorder resulting from the expression loss of genes on the paternally inherited chromosome 15q11-13. Early-onset life-thriving obesity and hyperphagia represent the clinical hallmarks of PWS. The noncoding RNA gene SNORD116 within the minimal PWS genetic lesion plays a critical role in the pathogenesis of the syndrome.Methods: We collected inguinal white adipose tissues (ingWA...

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...

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: Fetuin-A plays a role in insulin resistance and cardiovascular disease.Objective and hypotheses: The aim of present study was to determine the relation between fetuin-A levels and caridiometabolic risk factors and to investigate effect of serum fetuin-A to insulin sensitivity indices for determining whether fetuin-A is additional marker of insulin resistance in prepubertal children.Method: Ninety-nine prepubertal Korean...

Background: We want to know the clinical presentation and genetic mutation of congenital hyperinsulinism (CHI) patients in our country.Objective and hypotheses: To investigate the clinical outcomes and gene mutations related to CHI in our patients.Method: We studied the therapeutic outcomes of 95 cases of CHI and analyzed the associations between gene mutations and clinical features in 55 cases.Results: Among...

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...

Purpose: To evaluate the efficacy of supervised Artificial Neural Network (sANN) in bone age assessment and compare the diagnostic performance of sANN-based TW3 skeletal maturity assessment on hand radiographs with that of experienced child endocrinologists.Materials and methods: This study developed an optimized artificial intelligence TW3 bone age assessment system by using the sANN and rating for the 20 hand bones (13RUS+7carpal) from A to I. 8332 of ...

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...