ESPE Abstracts

Introduction: The proopiomelanocortin is a polypeptide of many biologically active peptides involved in many key functions which have not yet been clarified. The mutation in the gene encoding this polypeptide is associated with a clinical trials characterized by early-onset obesity, terciary adrenal insufficiency, and alteration of pigmentation. Eight cases with known genetic mutation have been published.Case report: Newborn male 27 days old from North A...

Background: Obesity is a major risk factor for developing type 2 diabetes mellitus (T2DM). Despite the obesity epidemics, the incidence of childhood T2DM is not increased.Objective and hypotheses: To assess the β-cell reserve expressed as an oral glucose disposition index (GDIo), an independent predictor of developing T2DM.Method: A total of 80 adolescents (61.3% girls), aged from 10.0 to 17.6 years (mean age 13.59±2.34 y...

Background: Carbimazole is widely used in the treatment of Graves’ disease and is well tolerated but can produce adverse effects in 5% of cases. Urticaria, which can develop as a drug reaction to carbimazole responds to withdrawal of the drug and symptomatic management. Urticaria is also a rare manifestation of thyrotoxicosis and does not respond to treatment, but regresses rapidly with the control of underlying hyperthyroidism.Objective and hypothe...

Background: The incidence of osteogenesis imperfecta (OI) worldwide is unknown. In the USA, the incidence is ~1/20 000 live births: for Indonesia (population 240 million) this should extrapolate to 12 000 OI patients rather than the 35 patients currently registered with the Indonesian Pediatrics Society (IPS), Faculty of Medicine, University of Indonesia-Cipto Mangunkusumo Hospital (RSCM). This enormous disconnect signifies many missed diagnoses, mortality or both.<p class...

Background: Continuous glucose monitoring (CGM) systems are an emerging technology that allows frequent glucose monitoring in real time.Objective and hypotheses: To assess the value of using CGM system (Medtronic) versus oral glucose tolerance (OGT) and HbA1c in the diagnosis of glycemic abnormalities (Prediabetes) in high-risk groups.Methods: We performed OGT and monitored glucose for 72 h using CGMS combined with four to five tim...

Background: Fasting blood glucose has been questioned as a sensitive screening method of dysglycemia in obese children, as good percentage with normal fasting glucose can had altered glucose tolerance test (GTT).Objective and hypotheses: Evaluate the reproducibility of the results of the GTT in overweight children.Method: We studied 120 children, 55 girls and 65 boys with BMI⊇P85. No genetic or hormonal abnormalities were det...

Background: The central precocious puberty (CPP) diagnosis is usually based on clinical evaluation but in its soon phase this evaluation is difficult so laboratory confirmation is crucial.Objective and hypotheses: To evaluated the usefulness of the Leuprolide stimulation test as a diagnostic method of idiopathic CPP.Method: Sixty-one girls, aged 5–8 years, were evaluated retrospectivaly for premature breast development. Girls ...

Background: Nephrogenic diabetes insipidus (NDI) is caused by inability of renal collecting duct cells to respond to arginine vassopresin (AVP)/antidiurethic hormone (ADH).Objective and hypotheses: The majority of patients (about 90%) have type 1, X-linked recessive form, of NDI caused by mutation in gene encoding the vassopresin V2 receptor. Type 2, autosomal NDI, have the rest 10% of patients. This type is caused by the aquaporin-2 water channel (AQP2)...

Background: It is long been known that thyroid hormone (TH) is essential for brain development; however most evidence is based almost on rodent models. Since the advent of advanced neuroimaging techniques, it is now possible to study the manifestations of TH role in developing human brain.Objective and hypotheses: To examine findings from structural and functional MRI investigations of maternal hypothyroidism and congenital hypothyroidism (CH), which rep...

Background: Congenital hyperinsulinism in infancy (CHI) is a neonatal disorder of uncontrolled insulin release leading to profound hypoglycaemia. In addition to defects in pancreatic β-cell function, we have recently demonstrated that the CHI pancreas is highly proliferative, with rates of proliferation up to 14-fold higher than in age-matched controls.Objective and hypotheses: As patients require pancreatectomy to alleviate hypoglycaemia, our aim w...