Article
Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia.
Clinical endocrinology - 1 Feb 2007
Lin Lin, Hindmarsh Peter C, Metherell Louise A, Alzyoud Mahmoud, Al-Ali Maryam, Brain Caroline E, Clark Adrian J L, Dattani Mehul T, Achermann John C
Abstract excerpt
OBJECTIVE: Familial glucocorticoid deficiency type I (FGD1) is a rare form of primary adrenal insufficiency resulting from recessive mutations in the ACTH receptor (MC2R, MC2R). Individuals with this condition typically present in infancy or childhood with signs and symptoms of cortisol insufficiency, but disturbances in the renin-angiotensin system, aldosterone synthesis or sodium homeostasis are not a...
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