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...

Background: Central Precocious Puberty (CPP) may be lead to consequences such as limitation adult stature, sexual abuse, and emotional distress. GnRH agonist therapy in patients with CPP has been demonstrated in increasing adult height and improving emotional distress in puberty stage.Objective: Evaluating the efficacy of treatment in patients with central precocious puberty after one year in Children Hospital 2, Vietnam in 7 years, from 01/2017 to 12/20...

Vosoritide is a C-type Natriuretic Peptide (CNP) analogue therapy for treatment of achondroplasia. Vosoritide acts on growth plate chondrocytes through the Natriuretic Peptide Receptor-B to stimulate increased endochondral bone growth, leading to increased growth velocity in treated subjects. In Phase II clinical studies, subject blood and urine samples were analyzed to monitor putative bone growth biomarkers including cross-linked C-terminal telopeptides of collagen II (CTxII...

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: Obese adults with normal glucose tolerance (NGT) but 1-h post load glucose (1 hPG)≧155 mg/dl have an increased cardiometabolic risk. In children, preliminary data suggest that 1hPG≧132.5 mg/dl might identify those at higher risk of type 2 diabetes.Objective and hypotheses: To assess whether NGT obese youth with 1hPG ≧132.5 mg/dl (High-NGT) have worse insulin sensitivity and secretion compared to obese youth with 1hPG &#60...

Congenital hyperinsulinism (CHI) is a rare hereditary condition that causes excessive insulin production in the clinical picture of severe hypoglycemia. Patients with CHI frequently have mutations in the ABCC8 and KCNJ11 genes, which code for KATP channels in pancreatic beta cells. We present a case of partial diazoxide responsiveness caused by a heterozygous ABCC8 mutation in a child with moderate CHI. A four-month-old term baby with a ...

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...