ESPE Abstracts

Keywords: precocious puberty, COVID-19Background: Studies have reported an increase in precocious puberty (PP) cases during the COVID-19 pandemic, but there is inconsistency in the findings. Various influencing factors have been proposed to explain this surge. The present study aimed to investigate the PP trend following the pandemic, examine potential influencing factors, and investigate the dose-response relationship b...

Background: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare and life-threatening primary immunodeficiency characterized by widespread autoimmunity. Mutations in the FOXP3 gene have been identified as the cause for IPEX syndrome.Objective and hypotheses: To describe clinical characteristics and genetic finding in the first Vietnamese patient with mutation of FOXP3 gene.Meth...

Background: Neonatal diabetes may be defined as hyperglycemia diagnosed within the first 6 months of life which is permanent neonatal diabetes or transient neonatal diabetes. They can result from some gene mutations such as KCNJ11, ABCC8, INS, GCK, … In there, the most common cause of neonatal diabetes mellitus is associated with activating mutations in the KCNJ11 gene, which encodes Kir6.2-a subunit of the ATP-sensitive potassium channel (KATP) of the β cell and AB...

Background: The X linked adrenoleukodystrophy (X-ALD) is a peroxisomal disease caused by defects of the ABCD1 gene on chromosome Xq28. This disease is characterized by progressive neurologic dysfunction, and occasionally associated with adrenal insufficiency. The estimated frequency is about 1:42000 in male, whereas the estimated frequency for heterozygous women is 1:14000. There was no correlation between genotype and phenotype of X-ALD patients....

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...

Objectives: Type one diabetes mellitus (T1DM) is an autoimmune disorder that is yet the most common type of diabetes in children and adolescents. Therefore, children and adolescents with T1DM are at increased risk for developing other autoimmune diseases including Graves’ disease. Detection of thyroid abnormalities in children is crucial since thyroid dysfunction can affect growth, pubertal maturation, insulin metabolism and gastrointestinal function. Herein, we reported ...

Background: X-linked adrenoleukodystrophy (X-ALD) is caused by a defect in the gene ABCD1, which maps to Xq28 and codes for a peroxisomal membrane protein that is a member of the ATP-binding cassette transporter superfamily. This disease characterized by progressive neurologic dysfunction, occasionally associated with adrenal insufficiency.Objective and hypotheses: To identify mutations of gene ABCD1 in Vietnamese patients with X-ALD.</...

Background: Persistent hyperinsulinemic hypoglycemia of infancy is the most common cause of persistent hypoglycemia in neonates and infants. It is a genetic disorder with both familial and sporadic forms. It is a clinically and genetically heterogeneous disorder, which ranges from life-threatening hypoglycemia presenting on the first day of life to only mildly symptomatic hypoglycemia in a child or adolescent that may be difficult to identify. The treatment of...

Introduction: Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of ACTH-independent Cushing’s syndrome and has characteristic gross and microscopic pathologic findings.Case presentation: We report a case of PPNAD in a 11-year-old girl. She was admitted to our hospital with a chief complaint of rapid weight gain in 1.5 years. She also had hypertension and the signs of Cushing syndrome. Examination associated with laboratory tes...