Molecular insights into inherited ACTH resistance syndromes.

  title={Molecular insights into inherited ACTH resistance syndromes.},
  author={Adrian J. Clark and Astrid Weber},
  journal={Trends in endocrinology and metabolism: TEM},
  volume={5 5},
The ACTH resistance syndromes-familial glucocorticoid deficiency (FGD) and the triple-A syndrome-have long been postulated to result from genetic defects of the ACTH receptor. We have demonstrated a point mutation that reduced function of this receptor in FGD, and subsequently we, and others, have identified other mutations of this gene in other families with this condition. Gene linkage studies, however, show that the ACTH receptor is not associated with either a subgroup o f FGD in which… CONTINUE READING