hrp0084p2-563 | Thyroid | ESPE2015

Nonautoimmune Neonatal Hyperthyroidism due to A633G Mutation in the Thyrotropin Receptor Gene

Jung In Ah , Cho Won Kyoung , Jeon Yeon Jin , Chae Hyo Jin , Kim Myung Shin , Suh Byung Kyu

Background: Congenital hyperthyroidism is a rare disease. In most patients with congenital hyperthyroidism are autoimmune forms caused by maternal thyroid-stimulating antibodies. In contrast to autoimmune hyperthyroidism that is transient, nonautoimmune form of congenital hyperthyroidism is persistent and results from activating germline mutations in the thyrotropin receptor (TSHR) gene.Case presentation: We report the case of a Korean male infant with s...

hrp0084p3-1031 | Growth | ESPE2015

Final Height in Survivors of Childhood Acute Leukaemia

Jung In Ah , Jeon Yeon Jin , Kim Shin Hee , Cho Won Kyoung , Park So Hyun , Cho Kyoung Soon , Jung Min Ho , Suh Byung Kyu , Kim Hyo Jin

Background: Long-term survivors of childhood acute leukaemia can suffer from growth impairment. The purpose of this study was to evaluate longitudinal growth and final height of paediatric patients who were treated with acute leukaemia and factors that can cause growth impairment.Methods: Of 234 patients (133 males and 101 females) who were diagnosed as acute lymphoblastic leukaemia (ALL; n=162) or acute myeloblastic leukaemia (AML; n=7...

hrp0082p1-d1-234 | Thyroid | ESPE2014

Association of Toll-Like Receptor-10 Polymorphisms with Autoimmune Thyroid Disease in Korean Children*

Cho Won Kyoung , Jeon Yeon Jin , Jung In Ah , Kim Shin Hee , Jang Jung-Pil , Choi Eun-Jeong , Jung Min Ho , Kim Tai-Gyu , Suh Byung-Kyu

Background: The Toll-like receptors are germline-encoded receptors that play an essential role in initiating the immune response against pathogens.Objective and hypotheses: We aimed to assess the association of TLRs polymorphism with autoimmune thyroid disease (AITD) in Korean children.Method: We define the polymorphism of TLR10, rs4129009, rs11096956, rs10004195 in 85 Korean AITD (GD=50, HD=35; M=16, F=69, mean age=12.9 3.1 years)...

hrp0084p2-375 | Fat | ESPE2015

The Relation of Serum Nesfatin-1 Level with Anthropometric and Metabolic Parameters in Korean Children and Young Adolescents

Kim Shin-Hee , Ahn Moonbae , Jung In-Ah , Jeon Yeon Jin , Cho Won Kyoung , Cho Kyoung Soon , Park So Hyun , Jung Min Ho , Suh Byoung-Kyu

Background: Nesfatin-1, a recently discovered anorexigenic neuropeptide, seems to play an important role in hypothalamic pathways regulating food intake and energy homeostasis.Objective and hypotheses: The aim of this study is to evaluate the relation of serum nesfatin-1 level with anthropometric and metabolic parameters in children and adolescents.Method: This study included 78 Korean children and adolescents (42 obese/overweight ...

hrp0084p3-643 | Bone | ESPE2015

Influence of Birth Weight and Total Body Less Head Bone Mineral Contents in 10–18 Korean Adolescents: Results from the Korea National Health and Nutrition Examination Surveys 2008–2010

Cho Won Kyoung , Lee Yoonji , Ahn Moonbae , Jeon Yeon Jin , Jung In Ah , Kim Shin Hee , Park So Hyun , Jung Min Ho , Suh Byung-Kyu

Background: In adolescents, as much as 51% of peak bone mass is accumulating and reaching 40% of bone mineral density (BMD) of adults. There are inconsistent reports on the associations between birth weight (BW) and bone mineral contents (BMC) in adolescents.Objective and hypotheses: We try to investigate the association between BW and BMC in adolescents.Method: Dual-energy x-ray aborptiometry assessment (DXA) of 10–18 adolesc...

hrp0084p3-689 | Diabetes | ESPE2015

Incretin Secretion was not Impaired in Obese Korean Children and Adolescents with Type 2 Diabetes

Park So Hyun , Kim Jae Hong , Jung Min Ho , Kim Sin Hee , Cho Gyung Sun , Ahn Moon Bae , Cho Won Gyung , Jung In A , Jeon Yeon Jin , Suh Byung Kyu

Objective: The role of incretins in type 2 diabetes (T2D) is controversial. This study investigated the association between incretin levels in obese Korean children and adolescents with T2D.Patients and methods: We performed a 2-h oral glucose tolerance test in obese children and adolescents with T2D and with normal glucose tolerance. Twelve obese children and adolescents with newly diagnosed T2D (DM group) and 12 obese age-matched subjects without T2D (...

hrp0082p1-d2-245 | Thyroid (1) | ESPE2014

Thyroid Dysfunction in Children After Hematopoietic Stem Cell Transplantation: Short Term Follow-Up for 12 Months

Jeon Yeon Jin , Jung In Ah , Kim Shin Hee , Cho Won-Kyoung , Lee Jae-Wook , Cho Kyoung Soon , Park So Hyun , Chung Nak-Gyun , Jung Min-Ho , Cho Bin , Suh Byung-Kyu

Background: We evaluated 12 months follow-up of thyroid function in patients who underwent hematopoietic stem cell transplantation (HSCT) during childhood and adolescents.Methods: We studied 83 hematologic-malignancy patients (46 boys and 37 girls, acute lymphoblastic leukemia=25, acute myeloid leukemia=51, chronic myelogenous leukemia=7) who underwent HSCT between January 2006 and December 2011.The mean age at HSCT was 9.78±4...

hrp0082p3-d2-713 | Diabetes (1) | ESPE2014

Development of Diabetes Mellitus after Hematopoietic Stem Cell Transplantation for Childhood Leukemia

Jung In Ah , Jun Yeon Jin , Cho Won Kyoung , Lee Jae Wook , Chung Nak Gyun , Jung Min Ho , Cho Bin , Suh Byung Kyu

Background: Hematopoietic stem cell transplantation (HSCT) recipients are at risk of endocrine complications as a result of chemotherapy and radiation therapy. Development of diabetes mellitus (DM) after HSCT is less frequently reported compared with other complications.Objective and hypotheses: We investigated clinical features of newly diagnosed DM after HSCT for treatment of childhood leukemia.Method: Between April 1999 and Marc...

hrp0089p3-p415 | Growth & Syndromes P3 | ESPE2018

Case Report: Novel ACAN Mutation in a SGA Short Stature without Accelerated Skeletal Maturation

Eun Park So , Sung Yeon Ahn

Heterozygous mutations in the ACAN, encoding for aggrecan or cartilage-specific proteoglycan protein, are associated with short stature with advanced skeletal maturation and skeletal dysplasia. A 2 years 7 month-old girl born small for gestational age presented with proportionate short stature (height 79.9 cm, SDS, −3.23) and bone age was delayed about 1year less than her chronologic age. She was born as small for gestational age.(38 weeks and 5 days of gestatio...

hrp0086p2-p957 | Thyroid P2 | ESPE2016

TBG Excess as a Cause of Hyperthyroxinemia and High T3 Detected Incidentally or Through Neonatal Screening Test

Jin Hye Young

Inherited thyroxine binding globulin (TBG) disorder can be identified incidentally or through neonatal screening test. TBG excess is characterized by high levels of thyroxine (T4) but normal level of free T4 (fT4), while TBG deficiency presents with low T4 levels and normal fT4 levels. TBG excess is caused by TBG gene duplication or triplication. A 27 day old newborn was brought to the hospital because of hyperthyroxinemia that was identified through neonatal screenin...