L.內分泌系統異常 Disorders of the endocrine system
【罕病分類】│【回目錄】
| •Kenny-Caffey氏症候群 Kenny-Caffey syndrome |
| •假性副甲狀腺低能症 Pseudohypoparathyroidism |
| •性聯遺傳型低磷酸鹽佝僂症 X-linked hypophosphatemic rickets |
| •Laron氏侏儒症候群 Laron syndrome (Laron Dwarfism) |
| •Bardet-Biedl氏症候群 Bardet-Biedl syndrome |
| •Alstrom氏症候群 Alstrom syndrome |
| •持續性幼兒型胰島素過度分泌低血糖症 Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) |
| •Wolfram氏症候群 Wolfram syndrome, DIDMOAD |
| •McCune Albright氏症候群 McCune Albright syndrome |
| •短指發育不良及性別顛倒 Campomelic dysplasia with autosomal sex reversal |
| •腎上腺皮促素抗性 ACTH resistance |
| •第一型遺傳性維生素D依賴型佝僂症 25-Hydroxyvitamin D 1-alpha-hydroxylase deficiency |
| •先天性腎上腺發育不全 Congenital adrenal hypoplasia |
| •Kallmann氏症候群 Kallmann syndrome |
| •永久性新生兒糖尿病 Permanent neonatal diabetes mellitus |
| •MIRAGE症候群 MIRAGE syndrome |