Hereditary adrenocortical unresponsiveness to adrenocorticotropin with a postreceptor defect.

@article{Yamaoka1992HereditaryAU,
  title={Hereditary adrenocortical unresponsiveness to adrenocorticotropin with a postreceptor defect.},
  author={T. Yamaoka and Tsuyoshi Kudo and Y Takuwa and Yu Kawakami and Mitsuo Itakura and Kamejiro Yamashita},
  journal={The Journal of clinical endocrinology and metabolism},
  year={1992},
  volume={75 1},
  pages={270-4}
}
We report two cases in one pedigree with hereditary adrenocortical unresponsiveness to ACTH (HACUA) where it is suggested that the pathogenic defect occurs after cAMP generation. Although the patients showed increased plasma ACTH, decreased plasma cortisol and dehydroepiandrosterone, and no steroidogenic response to exogenous ACTH, they responded normally to both furosemide administration and to a low sodium diet by showing increases in plasma aldosterone. The peripheral blood mononuclear… CONTINUE READING