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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When it was found that the Cortisol level was low [1.54 [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.
The affected patients typically have adrenal insufficiency due to ACTH resistance. The importance of this case is her having large-angle intermittent exotropia and the usage of punctal plugs in treatment of dry eye.