hrp0095p1-388 | Thyroid | ESPE2022

Next Generation Sequencing Analysis of Congenital Hypothyroidism Patients in A Single Tertiary Center

Park Jisun , Kim Sujin , Lee Jieun

Background: Congenital hypothyroidism is the most common neonatal metabolic disorder and detected at a rate of 1 in 3000 to 4000 live births. Compared to congenital hypothyroidism caused by defects in thyroid development leading to thyroid dysgenesis, thyroid dyshormonogenesis has tendency to be detected at older age and its clinical manifestations are individually different. Thus, to evaluate exact causes and predict clinical course for congenital thyroid dys...

hrp0095p1-256 | Diabetes and Insulin | ESPE2022

Analysis of NGS panel examination in patients suspected of MODY in a single tertiary hospital

Joo Eunyoung , Park Jisun , Kim Sujin , Lee Ji-Eun

Introduction: Maturity-onset diabetes of the young (MODY) is a genetically heterogeneous group of monogenic endocrine disorders which is inherited as autosomal dominant pattern and characterized pancreatic β-cell dysfunction. It has been estimated to represent around 1% to 6% of all diabetes. The hallmark of MODY is that the onset is before 25 years of age and inherited in an autosomal dominant manner. Generally, there are several known genes that cause M...

hrp0084p2-450 | Growth | ESPE2015

Pharmacokinetics and Efficacy of a Long-Acting Human GH with Fc Fusion Protein

Kim Sujin , Jin Dong-Kyu , Cho Sungyoon , Huh Rimm , Kim Jinsup , Yang Aram , Kwak Hyunhee

Background: Recombinant human GH (rhGH) therapy requires daily s.c. injections, this inconvenient treatment regimen results to poor compliance of the patient. Thus, to improve patient compliance, long-acting rhGH products including various protein fusion techniques have been in development during past 15 years.Objective and hypotheses: In this study, we describe the pharmacokinetics and efficacy of a novel long-acting GH using Fc fusion protein (rhGH-Fc)...

hrp0084p3-1010 | Growth | ESPE2015

Disease-Specific Growth Charts of Marfan Syndrome in Korea

Kim Sujin , Cho Sungyoon , Sohn Youngbae , Park Sungwon , Jin Dong-Kyu , Huh Rimm , Kim Jinsup , Yang Aram

Background: Patients with Marfan syndrome (MFS) presents with primary skeletal manifestations such as tall stature, chest wall abnormality, and scoliosis. And these primary skeletal manifestations affect the growth pattern in MFS. Therefore, it is not appropriate to use normal growth charts to evaluate the growth status of MFS.Objective and hypotheses: We aimed to develop disease-specific growth charts for Korean MFS patients and to use these growth char...