hrp0082p1-d2-148 | Growth (1) | ESPE2014

Beneficial Effects of Long-term GH Treatment on Adaptive Functioning in Infants With Prader–willi Syndrome

Lo Sin , Festen Dederieke , van Wijngaarden Roderick Tummers-de Lind , Collin Philippe , Hokken-Koelega Anita

Background: Knowledge about the effect of GH treatment on adaptive functioning in children with Prader–Willi syndrome (PWS) is limited.Objective and hypotheses: The aim of this study was to investigate the effect of GH treatment on adaptive functioning in children with PWS.Method: Vineland Adaptive Behavior Scale (VABS) was assessed at start, at the end of the RCT, and after 7 years of GH treatment. In the RCT, 75 children (42...

hrp0086p1-p906 | Thyroid P1 | ESPE2016

Thyroid Cancers in Korean Pediatric Populations with Thyroid Nodules

Park So Hyun , Jang Joon Ho , Park Su Jin , Ahn Moon Bae , Kim Sin Hee , Cho Won Kyoung , Cho Kyung Soon , Jung Min Ho , Suh Byung Kyu

Background: South Korea is one of the adequate or excessive iodine nutritional state countries and high-iodine intake is related to papillary thyroid cancer. The prevalence of thyroid cancer of South Korea has increased and the proportion of thyroid papillary cancer has increased as 97.9–98.3% in 2010. Childhood thyroid cancer is rare, and the prevalence of thyroid cancer in pediatric population was reported as 20–26% of thyroid nodules worldwide. However, there have...

hrp0082p2-d3-349 | Diabetes (2) | ESPE2014

Retinol Binding Protein 4 and Adiponectin Levels During Oral Glucose Tolerance Test in Obese Children Newly Diagnosed of Type 2 Diabetes

Park So Hyun , Kim Jae Hong , Cho Kyung Soon , Cho Min Sun , Jung In A , Kim Sin Hee , Jung Min Ho , Suh Byung Kyu

Background: Retinol binding protein 4 (RBP4) and adiponectin are known to be related with insulin resistance and type 2 diabetes.Objective and hypotheses: This study was aimed at investigating (RBP4) and adiponectin secretion in obese Korean children and adolescents with newly diagnosed type 2 diabetes (T2DM).Method: Nine obese children and adolescents with newly diagnosed T2DM (DM group) and ten obese age-matched subjects without ...

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 (...

hrp0095fc3.5 | Early Life and Multisystem Endocrinology | ESPE2022

Evaluating the Utility of Bi-functional Degrader Molecules for Selective Inhibition of PDE4 In Acrodysostosis Type2

Baillie George , Kyurkchieva Elka , Yan Sin Yuan , Ahmed Faisal , Rajapakse Navin , Schoolmeesters Angela , Richard Normand , Erdman Paul , Hecht David , Hoskote Chourasia Aparajita , Mercurio Frank , Fung Leah , Chan Kyle , Stirling David

Background: Acrodysostosis Type 2 (ACRDYS2) is a rare autosomal dominant skeletal dysplasia associated with intellectual disability and gain-of-function mutations in the phosphodiesterase type 4D gene (PDE4D) which, in turn, leads to a paucity of intracellular cAMP due to increased PDE4D activity. This increased PDE4 activity may be due to a greater existence of a mutant monomeric form of PDE4D. To date, the clinical use of PDE4 inhibitors in ACRDYS2 has been ...

hrp0094p2-406 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

ZSWIM7 is associated with human female meiosis and familial primary ovarian insufficiency

McGlacken-Byrne Sinéad M , Le Quesne Stabej Polona , Del Valle Torres Ignacio , Ocaka Louise , Gagunashvili Andrey , Crespo Berta , Moreno Nadjeda , James Chela , Bacchelli Chiara , Dattani Mehul , Williams Hywel J , Kelberman Dan , Achermann John C , Conway Gerard S

Background: Primary ovarian insufficiency (POI) affects 1% of women and is associated with significant medical consequences. In approximately 10% of cases, POI presents early with absent puberty or primary amenorrhoea. A genetic cause for POI can be found in up to 30% of women. Identified genes often relate to the complex biological processes occurring in fetal life which underpin normal ovary development and function in later adulthood.Objective: We aim...