hrp0095p1-32 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Six-year clinical outcome of enzyme replacement therapy for patients with perinatal lethal and infantile hypophosphatasia in Korea

Yoon Cho Sung , Kim Min-Sun , Noh Eu-Seon , young Bae Ga , won Park Sung , Jin Dong-Kyu , Kim Insung

Hypophosphatasia (HPP) is a genetic skeletal disease caused by loss-of-function mutations of ALPL encoding tissue-nonspecific alkaline phosphatase (TNSALP). The clinical presentation of HPP varies greatly, ranging from stillbirth without bone mineralization to findings in later life, such as delayed walking, short stature, skeletal deformities, bone pain, and pathologic fractures. The diagnosis is based on clinical examination, radiographic findings, biochemical parameters of ...

hrp0095p1-542 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Clinical Manifestation and Treatment Outcomes of Pheochromocytoma and Paraganglioma in Children and Adolescents : A 26-year Single- Center Experience

Young Bae Ga , Kim Min-Sun , Noh Eu-Seon , won Park Sung , Yoon Cho Sung , Jin Dong-Kyu

Purpose: Pheochromocytoma (PCC) and paraganglioma (PGL) (PPGL) are rare neuroendocrine tumors, and there is little information on how to treat them in children and adolescents. The objective of this study was to demonstrate the clinical presentation and treatment outcomes in children and adolescents with PPGL in a single Korean tertiary care hospital.Methods: Korean patients diagnosed with PCC and PGL before the age of 2...

hrp0095p1-595 | Thyroid | ESPE2022

Treatment of Graves' Disease in Children and adolecents with Long-Term Antithyroid Drugs: A 20-Year Single-Center Experience

Young Bae Ga , Kim Min-Sun , Noh Eu-Seon , Won Park Sung , Yoon Cho Sung , Jin Dong-Kyu

Background/purpose: Graves’ disease (GD) is an autoimmune disorder characterized by hyperthyroidism, diffuse goiter, and/or ophthalmopathy that is caused by the activation of the thyroid-stimulating hormone (TSH) receptor by thyrotropin receptor antibodies (TRAb). GD is the most common cause of thyrotoxicosis in children and adolescents, accounting for 10-15% of all thyroid illness in children and adolescents. The treatment of GD in children and adolesce...