Departments

Pediatric Endocrinology and Inherited Metabolic Diseases

Comprehensive Care for Endocrine Disorders and Inherited Metabolic Disorders in Children and Adolescents

Our division provides specialized diagnosis, treatment, and research across a broad spectrum of pediatric endocrine and inherited metabolic disorders, with expertise in lysosomal storage disorders, skeletal dysplasia, and rare endocrine disorders. Our practice model is cohesive and patient-centered, cutting-edge genomic diagnostics, personalized medicine, and global research partnerships to deliver exceptional care and foster therapeutic innovation.

Integrated Center for Endocrine & Rare Genetic Disorders

We operate Korea's largest clinical and research program for pediatric endocrine and rare genetic disorders. We have conducted or participated in numerous international clinical trials and maintain the biggest endocrine and rare genetic disorders cohort and genetic database in Korea, enabling rapid patient identification and precision medicine. Our infrastructure facilitates all stages of translational research, encompassing patient-derived models, functional studies, first-in-human trials, and long-term outcome monitoring. Our facilities possesses significant capabilities in enzyme replacement therapy, intracerebroventricular drug administration, and comprehensive patient-centered care. Our research encompasses diverse strategies for the development of next-generation treatments. As an international reference center, we facilitate educational exchanges, training, and symposiums for physicians, researchers, and patient groups.

Specialized Expertise

Endocrine Disorders Clinic

Our clinic offers subspecialty expertise in growth & puberty disorders, diabetes, thyroid disorders, Prader-Willi syndrome, Turner syndrome, Noonan syndrome, congenital adrenal hyperplasia, craniopharyngioma, pituitary disorders, and rare endocrine disorders.

Inherited Metabolic Disorders Clinic

We offer comprehensive care for various inherited metabolic diseases, specifically lysosomal storage disorders encompassing mucopolysaccharidosis, mucolipidosis, Pompe disease, and Fabry disease including genomic screening, enzyme replacement therapy, intracerebroventricular therapy, multidisciplinary treatment, and clinical trials.

Skeletal Dysplasia and Bone Health Clinic

We provide expert care for rare metabolic bone disorders including hypophosphatasia, X-linked hypophosphatemia, osteogenesis imperfecta, achondroplasia, with advanced genetic testing, individualized care plans, and consultation.

Undiagnosed Rare Disorders Clinic

We specialize in caring for patients whose conditions remain genetically unconfirmed despite extensive evaluation. Our multidisciplinary team offers state-of-the-art diagnostic approaches, including advanced genomic testing, and provides ongoing follow-up for patients without a definitive diagnosis.

Rare Disease Network and Global Outreach

Our division functions as one of the big center within Korea's rare disease network. Our interdisciplinary team, consisting of pediatric endocrinology and metabolic specialists, geneticists, specialized nurses, nutritionists, psychologists, and patient advocates, provides comprehensive care and long-term follow-up for complex and ultra-rare illnesses. We specialize in rehabilitation, neurocognitive care, and transition planning for adolescents and adults with rare genetic disorders. We provide comprehensive patient information and assistance via workshops, conferences on rare genetic disorders, and family counseling. By collaborating with premier institutions in the U.S., Italy, Taiwan, and Japan, we guarantee prompt access to innovative medicines that adhere to international standards. Our global service facilitates efficient referrals, alternative solutions, and international cooperative research for patients and clinicians.