ESPE Abstracts

Background: Wolfram syndrome, also known as Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, Deafness (DIDMOAD), is a rare neurodegenerative disease of autosomal recessive inheritance with incomplete penetrance. In addition, it may present with different endocrine and metabolic abnormalities such as pituitary dysfunction. We reported clinical features, biochemical features and mutational analysis of a boy with Wolfram syndrome.Case presentation: A 7...

Background: Patients affected by pseudohypoparathyroidism type 1b (PHPI-b) develop resistance to PTH leading to hypocalcemia and hyperphosphoremia, which is often associated with resistance to TSH. PHP-Ib is associated with methylation changes at one or several differentially methylated regions (DMRs) within the GNAS complex locus, located at 20q13.2–13.3. This locus gives rise to several different transcripts (NESP55, XL, A/B), with varying patterns of imprinted expressi...

Background: In paediatric patients with metabolic bone diseases, measurement of the concentrations of minerals including inorganic phosphate is often indicated, and hypophosphataemia is a clinically manageable biochemical disorder. The clinical interpretation of plasma or serum phosphate concentrations depends, to a certain extent, on the age- and gender-specific reference intervals applicable to the laboratory methods employed.Whereas h...

The girl was born full-term vaginally with birth weight 3.380kg. She had stayed in neonatal unit for 3 days for neonatal fever. Physical examination was unremarkable. She had normal-looking female external genitalia. She was discharged after a negative infection screen.She presented again at the age of 11 years with hoarseness of voice. Physical examination revealed normal growth and blood pressure. She had hoarseness of voice with mild laryngeal promine...

Background: GnRHa (gonadotropin releasing hormone analogue) inhibits growth spurt during treatment of precocious puberty. So they have limitation of final height gain.Objective and hypotheses: It is need to study about what factor associated with growth decrement and ideal suppression level of sex steroid during GnRHa treatment.Method: Female Sprague–Dawley rats of 3 weeks of age (Total 15) were divided into three groups; (1) ...

Background: Diabetes mellitus (DM) in childhood was mostly type 1 DM (T1DM), but sometimes it is not easy to classify, especially in the case having both type 2 clinical phenotype and autoantibody positivity. It is named as latent autoimmune diabetes in youth or type 1.5 DM (T1.5DM).Objective and hypotheses: This study was designed to evaluate the clinical characteristics of T1.5DM who had autoantibody positivity with clinical phenotype of T2DM.<p cl...

Purpose: Aetiologies of congenital hypothyroidism (CH) in newborn period are various, and TSH receptor (TSHR) mutation is known as one of them. We evaluated mutational analysis of the gene TSHR and clinical characteristics in the patients with CH or neonatal hyperthyrotropinemia.Method: Mutation analysis was done in 96 children with CH or transient hyperthyrotropinemia who has been managed at the Department of Pediatrics in Dankook University Hospital. C...

Background: The weekly sustained-release growth hormone (GH) has been approved for treatment in growth hormone deficiency (GHD). It provides a practical strategy for improving adherence.Objective and hypotheses: To evaluate the long-term safety and effectiveness of two formulations of daily (Eutropin®) and weekly (EutropinPlus®) GH in Korean pediatric GHD patients.Method: A multicenter, long-term, pr...

Background: Over 4 years, 1,526 patients received Eutropin® and EutropinPlus® (recombinant human growth hormone (GH), LG Life Sciences, Ltd.) while enrolled in the LG Growth Study (LGS), designed to monitor the long-term effectiveness and safety of GH. We present LGS experience for GH treatment during 4 years in growth hormone deficiency (GHD)Objective and hypotheses: To evaluate the long-term safety and efficacy of Eutrop...

Introduction: Osteoporosis is medical condition commonly associated with immobilization in children, which can lead to a vicious cycle of disability, worsening osteoporosis, and recurrent fractures. Currently, bisphosphonates are widely used as a standard therapy in children with osteoporosis, but there are limited data on efficacy according to its dosage and duration. We aimed to evaluate efficacy of bisphosphonate treatment according to the dosage and durati...