Adrenocorticotropin receptor in familial glucocorticoid deficiency

Recent studies have revealed the presence of four subtypes for the melanocortin receptor (MC-R). Among these MC-Rs, MC2-R is considered to be an adrenocorticotropin (ACTH) receptor because its expression is almost localized in the adrenal cortex. Five Japanese patients with ACTH unresponsiveness were examined as to whether they have mutations in the putative ACTH receptor. Among these patients, there are two groups of siblings, each of which consists of two individuals. The coding region of the ACTH receptor gene was amplified by polymerase chain reaction and directly sequenced on both strands, however, no point mutation was found in any of the five patients, suggesting that familial glucocorticoid deficiency, caused by the mutated ACTH receptor, may be rare.