O'Rahilly Stephen
Department of Medicine and Clinical Biochemistry, Box 157, Addenbrooke's Hospital, University of Cambridge, Cambridge CB2 2QQ, UK.
Eur J Endocrinol. 2002 Oct;147(4):435-41. doi: 10.1530/eje.0.1470435.
The detailed study of rare, extreme human phenotypes has a long and distinguished history in endocrinology. Such individuals have often acted as 'experiments of nature' providing important novel information regarding endocrine physiology and mechanistic insights relevant to the study of more common endocrine disorders. This review presents a personal experience of the study of two such extreme phenotypes, obesity and severe insulin resistance.
对罕见、极端人类表型的详细研究在内分泌学领域有着悠久而卓越的历史。这类个体常充当“自然实验”，提供有关内分泌生理学的重要新信息以及与更常见内分泌疾病研究相关的机制性见解。本综述介绍了对两种此类极端表型（肥胖和严重胰岛素抵抗）研究的个人经历。
