ESPE Abstracts

Background: Recently, the American Diabetes Association introduced HbA1c test for diagnosing diabetes with a cut point of ≥6.5% in addition to criteria based on glucose levels.Objective and hypotheses: The aim of this study was to evaluate the correlation between plasma glucose (fasting plasma glucose (FPG) and 2-h plasma glucose after an OGTT (2-h OGTT)) and HbA1c for diagnosing diabetes in Korean children.Method: A total of...

Objective: To accumulate the information in the long-term studies of the variation of the limb segments length and proportion in the process of growth and development of children, we have measured and summarized the average level of limb segments length for the children and adolescents in the main urban area of Chongqing, calculated the ratios of limb segments length to height and extremities-trunk ratio, body proportions, and analyze their age trends.Me...

Background: The IGF system is involved in the development of metabolic and cardiovascular disease. This study aimed to investigate the association of insulin-like growth factor-1 (IGF1), IGF-binding protein-1 (IGFBP1) and IGFBP3 with insulin resistance and type 2 diabetes in children.Methods: We included 36 children aged 10 to 16 years without known diabetes, medication, chronic disease. They were classified into three groups according to the results of ...

Objective: Maturity onset diabetes of the young (MODY)5 is a type of monogenic diabetes. Primary autosomal recessive microcephaly (MCPH)3 is a rare microcephaly caused by depletion of neuronal progenitor cells characterized by mostly normal brain structure, mental retardation, and premature closure of the frontal cranial suture. To report a case of MODY5 combined with MCPH3, in order to increase the clinical attention to this disease.<st...

The patient was a Chinese girl who born 40 weeks of gestation by caesarean section. Her birth weight was 2900g (10th–25th centile), birth length was 48cm (10th– 25thcentile). Both parents are in good health. The family history was unremarkable. She was first admitted to our hospital because of seizure afebrile at 6 months old. She presented discontinues generalized tonic-clonic seizures for 3~5minutes several times, it seemed that these onsets were not associate...

Background: Progressive familial intrahepatic cholestasis (PFIC) is an autosomal recessive diseases.Objective and hypotheses: To explore the characterization of ATP8B1, ABCB11 and ABCB4 gene mutational spectrum in children from South China.Method: By using PCR combined with direct DNA sequencing for 32 patients.Results: Six patients were diagnosed as PFIC.Conclusion: Six novel mutations...

Introduction: Genes on the X chromosome (BMP15, FMR1) and autosomal chromosomes (FOXL2, RSPO1, WNT4) are known to influence ovarian development. 46,XX gonadal dysgenesis is a rare disease caused by chromosomal abnormalities, genetic mutations, and postnatal ovarian damage, leading to premature ovarian failure.Case Report: A 16-year-old female presented with primary amenorrhea and poor breast development. She was born at ...

Sleep deficit is the well known risk factor for obesity in children and adult. Adenotonsillar hypertrophy is the main cause of obstructive sleep apnea(OSA) in childhood. Adult type (type II ) OSA is increasing in obese children. Eleven year old boy visited our clinic with chief complain of polyuria, polydipsia onset two weeks ago. His grandmother and father are type 2 diabetes mellitus. Adenotonsillectomy was recommended for tonsillar hyperthrophy (Grade 3) and had snoring for...

Background: Precocious puberty in girls may result in loss of FAH, and particularly may relates to obesity when entering adulthood. However,The influence of the timing of pubertal onset on the FAH and the change of body weight during pubertal stages is still controversial.Objective: The research is to investigate the pubertal growth pattern and the change of BMI levels in girls with ICPP and those who have normal onset of puberty but at different ages.</...

Background: 3-Ketothiolase deficiency (3KTD) is an inherited error of metabolism affecting isoleucine catabolism and ketone body utilization. This disorder is clinically characterized by intermittent ketoacidotic episodes with no clinical symptoms.Objective and hypotheses: To research the gene mutation of 3 acetoacetyl-CoA thiolase in non-diabetic ketoacidosis and provide a basis for diagnosis of 3KTD.To reveal the role of 3 acetoacetyl-CoA thiolase in i...