hrp0082p3-d2-1000 | Thyroid (1) | ESPE2014

Changes of Laboratory Findings Before and After Thyroid Hormone Replacement in a Naïve 19.24 Year-Old Female Case of Ectopic Thyroid

Oh Phil Soo , Choi Joong Wan

Background: Hypothyroidsim is known to be associated with liver function, cholesterol and some hormone levels including GH. But, there are fewer reports about the gonadotropin levels in thyroid dysfunction.Objectives and hypotheses: We report here some interesting laboratory findings in a 19.24-year-old severe short stature female case of ectopic thyroid.Methods: Laboratory investigations including the combined anterior pituitary f...

hrp0092p3-246 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

An Adolescent Girl Presented with Hoarseness of Voice

YAU Ho-chung , TAM Yuk-him

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...

hrp0084p2-295 | Diabetes | ESPE2015

Sirolimus Therapy in Infants with Congenital Hyperinsulinism after Near Total Pancreatectomy

Choi keun Hee , Chung Hye Rim

Background: Congenital hyperinsulinism is the most common cause of persistent hypoglycaemia in neonates and children. It is important to minimize recurrence of episodes of hypoglycaemia. In some cases, Hypoglycemia was not controlled even after near total pancreatectomy.Objective and hypotheses: To study the glycemic response of sirolimus in patients with hyperinsulinemic hypoglycaemia that was not responsive to octreotide and calcium channel blocker aft...

hrp0095lb4 | Late Breaking | ESPE2022

The association between glycated albumin and HbA1c in pediatric acute leukemia patients

Yeun Sim Soo , Bae Ahn Moon , Suh Byung-Kyu

Introduction: Traditionally, HbA1c has been used as a preferred glycemic index in diabetes patients. However, as many acute leukemia patients often present with anemia and/or pancytopenia, HbA1c may not accurately represent blood glucose level in this group. Glycated albumin represents the average level of blood glucose in recent 2-3 weeks, independent of red blood cell life. In this study, we aim to evaluate the usefulness of glycated albumin as glycemic moni...

hrp0092p1-184 | Diabetes and Insulin (1) | ESPE2019

A Case with Monogenic Diabetes Caused by RFX6 Mutation in a 14-Year-Old-Girl

Kim Goo Lyeon , Kwak Soo Heon , Yu Jeesuk

Introduction: In previous times, diabetes mellitus in children and adolescents was usually type 1 diabetes which was caused by autoimmune beta cell destruction, but due to the increased prevalence of obesity, the incidence of type 2 diabetes was explosively increased in children and adolescents. The underlying mechanism of childhood-onset type 2 diabetes mellitus may be different to the adult-onset type 2 diabetes. It is worthwhile to find new causes of monoge...

hrp0092p3-64 | Diabetes and Insulin | ESPE2019

De Novo Mutation of ABCC8 Gene in a Child with MODY Developed at 25 Months of Age

Lyeon Kim Goo , Heon Kwak Soo , Yu Jeesuk

Introduction: Recently the incidence of type 2 diabetes was explosively increased in children and adolescents. The underlying mechanism of childhood-onset type 2 diabetes mellitus may be different to the adult-onset type 2 diabetes. Therefore, it is useful to conduct genetic study in children with type 2 feature to understand underlying cause of glycemic dysregulation as well as for the management of diabetes mellitus.Case</stron...

hrp0084p2-267 | Diabetes | ESPE2015

Glycaemic Dysregulation in Transfusion Dependent Thalassaemia Patient in a Children’s Hospital

Lim Song Hai , Lim Wilkins , Soo Thian Lian

Background: Thalassaemia patients are at risk of developing diabetes mellitus (DM) and pre-diabetes status predominantly due to iron overloading. The prevalence is 20–30% in adult patients. Age, serum ferritin, T2* magnetic resonance imaging (MRI) of the heart and pancreas volume has been found to be associated with DM. However, majority of the studies involved more adults than children.Objective and hypotheses: To establish the prevalence of glucos...

hrp0089p3-p064 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

Hypercalcemia Associated with Increased Parathyroid Hormone-related Protein (PTHrP) in a Patient with Medulloblastoma Successfully Treated with Pamidronate

Kang Seok Jin , Kim Heung Sik

We report a patient with medulloblastoma showing severe hypercalcemia and a raised PTHrP serum level. He was a 19-year-old with a history of recurrent medulloblastoma. He developed constipation, lethargy and altered mentality for 3 weeks. There was no family history of hypercalcemia. Laboratory test revealed hypercalcemia of 18.2 mg/dL. PTHrP increased to 10.7 pmol/L (normal range: <1.1 pmol/L), whereas serum level of intact parathyroid hormone was suppressed to 5 pg/mL (n...

hrp0089p2-p194 | Fetal, Neonatal Endocrinology and Metabolism P2 | ESPE2018

Molecular Defects Identified by Whole Exome Sequencing in a Chinese Boy with Fructose-1,6-Bisphosphatase Deficiency

Huang Zhuo , Wu Jin , Xiang Chengfa

Backgroud: Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare autosomal recessive inherited disorder of gluconeogenesis, which caused by the mutations in the FBP1 gene. FBPase deficiency is characterized by recurrent episodes of hypoglycemia with metabolic and lactic acidosis. If diagnosed early, the prognosis of this disorder is excellent by the prevention of hypoglycemia and avoidance of intake of fructose and sucrose. However, the misdiagnosis of FBPase defi...

hrp0089p1-p185 | Growth &amp; Syndromes P1 | ESPE2018

Growth Outcome in Girls with Idiopathic Central Precocious Puberty Treated with Gonadotropin-releasing Hormone Agonist

Sang Lee Hae , Hwang Jin Soon

Objective: Gonadotropin-releasing hormone agonists (GnRHa) are the treatment of choice for central precocious puberty (CPP) and have been widely used for decades. We determined the effect of GnRHa treatment on auxological outcomes of girls with idiopathic CPP.Methods: This study included 84 girls treated monthly with depot leuprolide acetate who had reached adult height. We compared their final adult height (FAH) with their initial predicted adult height...