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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tuberculosis, fungal infection, human immunodeficiency virus, cytomegalovirus) (viii) Triple A syndrome or Allgrove syndrome (alacrimia, achalasia, adrenal insufficiency) (ix) Adrenal unresponsiveness to ACTH due to gene mutations (x) Familial glucocorticoid deficiency (xi) Drug effects (mitotane, ketoconazole, aminoglutethimide, metyrapone, megestrol, rifampin) SECONDARY (CENTRAL) (i) Congenital (a) Septo-optic dysplasia (b) Pituitary aplasia/hypoplasia (c) Agenesis of corticotrophs (d) POMC (ii) Acquired (a) Trauma (b) Brain tumor (craniopharyngioma) (c) Lymphocytic hypophysitis (d) Surgery (e) Cranial irradiation (f) Infiltrative disease (hemochromatosis, sarcoidosis, Langerhans cell histiocytosis) (g) Steroid withdrawal after prolonged administration
At present, no explanation for the association of achalasia, alacrima and adrenal unresponsiveness to ACTH in the AAA syndrome is available.