ESPE Abstracts

Background: Neonatal diabetes mellitus (NDM) is a rare (1:300 000–400 000 newborns) but potentially devastating metabolic disorder characterized by hyperglycemia combined with low levels of insulin. Two main groups have been recognized on clinical grounds, transient NDM (TNDM) and permanent NDM (PNDM).Objective and hypotheses: To describe clinical features and laboratory manifestations of patient with NDM and evaluate outcome of management.<p cl...

Background: Neonatal diabetes is a rare disorder with an incidence of between 1 in 215 000–500 000 live births with approximately 50% having permanent neonatal diabetes (PNDM). Insulin gene (INS) mutations have recently been described as a cause of PNDM.Objective and hypotheses: To describe clinical features and laboratory manifestations of patient with PNDM due to INS gene mutation and evaluate outcome of management....

Background: Turner syndrome (TS) patients frequently have short stature. Females adults with TS are usually 20 cm shorter than normal females. Growth hormone (GH) can improve final height in TS patients.Objective: To evaluate GH therapy for children with Turner syndrome in term of efficacy and side effectPatient and Method: This serial cases study was done in TS patients in a perio...

Introduction: Neonatal diabetes mellitus (NDM) is a rare (1:300,000–400,000 newborns) but potentially devastating metabolic disorder characterized by hyperglycemia combined with low levels of insulin. Two main groups have been recognized, transient NDM (TNDM) and permanent NDM (PNDM).Objective: To describle clinical features and laboratory manifestations of patient with NDM and evaluate outcome of management.Subject and method...

Background: Hyperinsulinemic hypoglycemia (HH) is a consequence of unregulated insulin secretion by pancreatic β-cells. Congenital HH is caused by mutations in genes involved in regulation of insulin secretion (ABCC8, KCNJ11, GLUD1, CGK, HADH, SLC16A1, HNF4A and UCP2). Severe forms of congenital HH are caused by inactivating mutations in ABCC8 and KCNJ11, which encode the two components of th...

Objectives: To describe the characteristics of central precocious puberty in patients at Children’s Hospital 2, Vietnam from 1/2010 to 12/2016.Method: Cross – sectional analysis.Results: There were 504 cases of central precocious puberty. The mean age was 7.6±1.4 years old; most of them were females (females/males: 71/1). The rate of overweight or obesity was 52.4%, accelerated height was recorded in 64.2%. The most ...

Background: Multiple organ failure syndrome (MOFS) can occur in diabetic ketoacidosis (DKA).Objective and hypotheses: A 6-year old female child had DKA and MOFS.Method: We presented a case study of a child with DKA and MOFS.Results: A 6-year old female child had 1-week history of excessive thirst, polyuria, polydipsia, and weight loss. One day before coming to Vietnam National Hospital of Pediatrics (NHP), sh...

Maturity onset diabetes of the young (MODY) is a clinically heterogeneous disorder characterized by noninsulin-dependent diabetes diagnosed at a young age (<25 years) with autosomal dominant transmission and absence of pancreatic autoantibodies. Due to the relatively low prevalence in the general population and atypical clinical manifestations, MODY is often misdiagnosed with type 1 diabetes and type 2 diabetes. Currently, distinguishing MODY from type 1 and type 2 diabete...

Primary hyperlipidemia is a group of diseases caused by genetic defects involved in the synthesis, transport and metabolism of lipoproteins.Objectives: our aim is to describe the clinical, biochemistry and imagine characteristics of primary hyperlipidemia and to review outcome of management for patients with primary hyperlipidemia.Subjects and Methods: this is case series study including 59 patient...

Background: Differentiated thyroid carcinoma has an incidence of 15.2 per 100 000 in adolescents. The clinical challenge is identifying nodules requiring further intervention. Current modalities, in isolation, have poor ability to reliably differentiate benign from malignant nodules.Objective and hypotheses: To derive and validate a predictive score that integrates clinical, laboratory, radiological and cytopathological parameters to define malignancy ri...