ACTH Resistance Syndromes

The adrenocorticotrophic hormone (ACTH) receptor controls adrenal steroidogene-sis in response to circulating ACTH. The recent cloning of the receptor has opened a new understanding of the normal and pathologic functioning of the adrenal cortex. This chapter will focus on the clinical forms of hereditary ACTH resistance syndromes and their association with abnormalities of the ACTH receptor gene.