ESPE Abstracts

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...

Abstract Withdrawn...

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...

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)...

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...