[MIM 202 200, 202 355, 607 398, 609 197, 614 736, 617 825]

(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: March 2018