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Considerable developments have occurred in the field of endocrinology in recent years, most notably in identifying and measuring phenotypic markers of endocrine diseases. Although such markers have provided the essential information necessary for the current diagnostic framework in endocrine disease, they often reveal little about disease pathogenesis. While hormone excess or deficiency remains the central element of endocrine disorders, it only provides information about the endpoint of disease. To develop therapies that go beyond replacement therapy, we must dissect the causes of these hormonal imbalances. Only then will it be possible to predict disease earlier and to treat its underlying causes. Because the key etiologic events in these diseases are a combination of environmental and genetic factors, a number of ways exist to tackle this problem. Identifying environmental causes has proved challenging but remains a valid approach to understanding disease pathogenesis. The other approach is to identify the key genetic factors that might be involved in disease and the pathways to which these factors contribute; therefore, interest in using human genetics to define disease susceptibility determinants has grown. © 2003 Lippincott Williams & Wilkins.

Original publication




Journal article


Current Opinion in Endocrinology and Diabetes

Publication Date





168 - 175