ESPE Abstracts

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...

Background: Osteoporosis is a condition of skeletal disorders characterized by compromised bone strength that predisposes to an increased risk of fracture. Osteoporosis is a common disease in adult, especially in postmenopausal women. Nevertheless, pediatric osteoporosis seems to be a rare disease, which increases risk of fracture not only in childhood period but also reach adult-hood. Therefore, the role of diagnosis correctly and appropriate treatment at this age group are v...

Background: Neonatal diabetes mellitus (NDM) is a rare insulin-requiring form of diabetes, diagnosed in the first six months of life. Unlike type 1 diabetes mellitus, it is caused by the mutation genes involved in the development and secretory function of the pancreas. ABCC8 gene mutation, resulting in both transient and permanent NDM, increases the sensitivity to the stimulatory actions of ADP, so it remain the potassium channel open and prevent insulin release. Sulfonylurea ...

Keywords: recombinant human growth hormone (rhGH), growth hormone deficiency (GHD), short statureBackground: Recombinant growth hormone is used for the treatment of growth hormone deficiency. In children treated early, catch-up growth is excellent, with a normal final height. A final height gain of 30 cm can be expected on average. However, it has long been recognized that there is variability in the magnitude of individ...

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....

Hashimoto's thyroiditis (HT) is most commonly caused by autoimmune thyroid disease and rarely in children. It is characterized clinically by gradual thyroid failure, with or without goiter formation, due to autoimmune-mediated destruction of the thyroid gland involving apoptosis of thyroid epithelial cells. In fact, thyroid function at presentation may significantly vary in the different pediatric reports, ranging from euthyroidism (52.1%) to overt hypothyroidism (41.4...

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...

Objective: To investigate response to growth hormone (GH) treatment for idiopathic GH deficient (GHD) and family short stature (FSS) and Small for Gestational Age (SGA) patients or Combined group.Design: GHD, FSS, SGA and Combined group patients who were currently receiving GH and had completed treatment with treatment duration of more than 6 months (from 8/2019 to 5/2021) at International Vinmec Central Park hospital. M...

Background: 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.<p class="abst...