In the past ten years, pediatric endocrine and genetic metabolic diseases have been the hottest research areas in pediatrics. The pediatric endocrinology and genetic/metabolic diseases specialty of The First Hospital of Jilin University is the earliest pediatric endocrinology specialty established in Jilin Province, which fills the gaps of pediatric endocrinology and genetic / metabolic disorders. The establishment of this discipline marks the improvement of the diagnostic level of difficult pediatric diseases in Jilin Province and the development of pediatric department in The First Hospital of Jilin University is toward a more specialized direction; With recent years of development and construction, the department has gradually developed from an emerging discipline into a small but comprehensive, small and refined clinical first-line discipline, and has now become one of the characteristic specialties of our hospital’s pediatrics. The department is in the leading position in Jilin Province in terms of the clinical level and has reached the domestic advanced level.