glucocorticoid deficiency type 1

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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.