In recent years, the molecular basis of several human disorders, especially endocrine diseases, has been increasingly unraveled. In many cases the defect has been recognized to result from abnormal structure of genes encoding for hormone receptors. Many syndromes of hormone resistance were found to result from an inability of the target receptor to perform its physiologic function, and the molecular defect responsible for such phenotypes has been found to reside in loss-of-function or inactivating mutations of the corresponding receptor gene. This has been shown to be the case for the luteinizing hormone, follicle-stimulating hormone, and estrogen receptors, to mention some of the most recently identified genes, and also for the longer established growth hormone, corticotropin, vasopressin, and calcium-sensing receptor genes, among others. Mutations in all these genes have been shown to be involved in producing endocrine-resistant states. Identification and characterization of naturally occurring receptor mutations has contributed to our understanding not only of the molecular basis of endocrine diseases but also of the basic receptor signaling mechanisms and the physiology of hormone interactions.
ASJC Scopus subject areas
- Internal Medicine
- Endocrinology, Diabetes and Metabolism