ESPE Abstracts

Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome (IPEX) is caused by mutations in the gene that encode for the transcription factor FOXP3. IPEX is a rare, often fatal disease. However, several cases present later onset, mild forms or less common clinical manifestations. We report a case who had de novo mutation of FOXP3 causing neonatal diabetes but without other features of IPEX syndrome. An 8 days old male, late preterm at 36 weeks, low birthweight 2200g...

Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is a mitochondrial multisystem disorder. The m.3243A>G pathogenic variant in the mitochondrial gene MT-TL1 is present in approximately 80% of individuals with MELAS. In this article, we report a 7-year-old girl with the classical MELAS phenotype. After the age of 1 year, she had recurrent episodes of nausea and vomiting. In this episode, she presented with focal seizures ...

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: 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: 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...

Precocious puberty is defined by the development of secondary sexual characteristics before the age of 8 in girls and before the age of 9 in boys. If not diagnosed and treated at an early stage, precocious puberty can compromise final adult height and trigger psychological disturbances. Gonadotropin- releasing hormone analogs (GnRHa) contributes to achievement of target final height by reducing the acceleration of bone maturation.Objectives: To analyze c...

Pheochromocytoma (PCC) is a rare tumor arising from the adrenal medulla as well as extra-adrenal paraganglion system and secreting catecholamines causing severe hypertension in children. The gold standard for diagnosis is the measurement of free plasma levels of metanephrines while management evaluates the location and size of the tumor and possible metastatic lesions. Preoperative treatment with alpha blockers, beta blockers and tyrosine hydroxylase inhibitors improves safety...

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.</...

Central precocious puberty is more common in girls than boys and over 90% of girls central precocious puberty is idiopathic Pathological causes of central precocious puberty in very young girls include tumors, hydrocephalus, CNS infections, or post-traumatic events Astrocytoma is one of the very rare causes. Pilocytic astrocytomas are usually benign and may be diagnosed before the onset of precocious puberty due to neurological symptoms or be diagnosed for the first time in ch...