关键词: 罕见病, 卡尔曼综合征, 自身免疫性垂体炎, 特殊类型糖尿病, 代谢性骨病

Abstract:

The endocrine metabolic system includes endocrine glands and endocrine tissues that regulate body function by secreting hormones. The progress of endocrine rare diseases is concealed,  and the clinical manifestations overlap with common diseases. Many of them are genetic diseases, and the diagnosis depends on genetic testing. The conventional treatment is not effective. According to the first rare disease catalogue  issued  in China in 2018 and the endocrine organs mainly involved, we select typical endocrine rare diseases such as Kallmann syndrome,  type B insulin resistance and hypophosphatemic rickets for further investigation. With respect to  pituitary,  pancreatic and bone metabolism,  the pathogenesis,  clinical features,  treatment methods of endocrine rare diseases are systematically elaborated.

Key words: raredisease; , Kallmann syndrome; , autoimmune hypophysitis; , special type diabetes mellitus; , metabolic bone disease raredisease; , Kallmann syndrome; , autoimmune hypophysitis; , special type diabetes mellitus; , metabolic bone disease