Siblings with ACTH Insensitivity Due to Lack of ACTH Binding to the Receptor

Endocrine Journal

OSAMU ISHIDA²  TAKASHI FUJIHIRA²  MINORU YAMAGISHI¹  YUKIYO YAMAMOTO¹  ISAO MORIMOTO²  FUMIHIKO SHIRAKAWA²  MASANORI NODA¹  YASUSADA KAWADA¹ 

[1] Department of Pediatrics, University of Occupational and Environmental Health;First Department of Internal Medicine, University of Occupational and Environmental Health

关键词: ACTH;    ACTH insensitivity;    ACTH receptor;    Cyclic AMP;    Binding study;   

DOI  :  10.1507/endocrj.42.171

学科分类：内分泌与代谢学

来源: Japan Endocrine Society

【 摘 要 】

References(28)Cited-By(4)We report two siblings, a 9-year-old boy and 4-year-old girl, with ACTH insensitivity. They were referred to our hospital because of pigmentation of the skin. They had normal plasma cortisol and urinary 17-OHCS levels despite markedly high plasma ACTH, and these did not respond to consecutive 3-day ACTH-Z administration, but plasma aldosterone responded normally to increased plasma renin activity after a low sodium diet. We examined the characteristics of ACTH receptors in peripheral blood mononuclear leukocytes (MNLs) obtained from the patients and their family. Adenylate cyclase generation caused by an addition of ACTH did not occur in MNLs from the patients. In studies on ACTH binding to MNLs, a lack of high-affinity ACTH binding was observed in the patients. These results suggest that the patients have a defect in ACTH binding to the receptors, resulting in ACTH insensitivity. The reason for this defect in ACTH binding remains unclear because no significant mutation in the ACTH receptor DNA sequence was detected in the MNLs of these patients.

【 授权许可】

Unknown