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...