glucocorticoid deficiency type 1

(redirected from adrenal unresponsiveness to ACTH)

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 ?
At present, no explanation for the association of achalasia, alacrima and adrenal unresponsiveness to ACTH in the AAA syndrome is available.