glucocorticoid deficiency type 1

(redirected from ACTH resistance)

glucocorticoid deficiency type 1

An autosomal recessive (OMIM:202200) disorder characterised by progressive primary adrenal insufficiency, without mineralocorticoid deficiency due to congenital insensitivity or resistance to ACTH.
 
Molecular pathology
Genetic variations in MC2R, which encodes melanocortin 2 receptor, cause glucocorticoid deficiency type 1.
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References in periodicals archive ?
54 [mu]U/L (normal >15 [mu]U/L)] and ACTH level was considerably high [2421 pg/mL (normal: 0-46 pg/mL)] in the blood sample obtained at the time of hypoglycemia, a diagnosis of ACTH resistance syndrome was made.
Heterogeneity in the molecular basis of ACTH resistance syndrome.