ACTH resistance | definition of ACTH resistance by Medical dictionary
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.
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.