[MIM 202 200, 607 398]

(FGD, isolated familial glucocorticoids deficiency)

Prevalence < 1.106. Autosomal recessive transmission of a mutation of the MC2R gene (ACTH receptor) (type 1), of the MRAP gene (melatonin 2 receptor accessory) (type 2) or of the STAR gene (unconventional mutated form of this gene). Lack of glucocorticoids secretion but normal secretion of the mineralocorticoids.

Hypoglycemias and neonatal convulsions, skin hyperpigmentation, frequent infections, allergic background.

Diagnosis: low cortisol level and high ACTH are level.

Anesthetic implications:

substitutive opotherapy for the glucocorticoids deficiency; monitoring of Na, K and glycemia

References : 

-         Francescato G, Salvatoni A, Persani L, Agosti M.
A rare genetic disorder causing persistent severe neonatal hypoglycaemia : the diagnostic workshop.
BMJ Case Reports 2012; doi 10.1136/bcr-03-2012-5979

Updated: May 2025