(Familial or sporadic glucocorticoid resistance)

Very rare. Various modes of transmission , sometimes sporadic, of a mutation of the GR gene, that codes for the cell receptor of glucocorticoids . It causes insensitivity of the affected target organs to their effects. ACTH and cortisol levels are increases but without signs of hyperadrenocorticism. In response to the increase in the level of ACTH, there is an increase in glucocorticoid, mineralocorticoids and androgenic hormones: the variable distribution of the mutation among in the target tissues explains the  variability of the symptoms.

It can therefore be observed:

-               chronic fatigue without hypertension

-        excess of mineralocorticoids: hypertension, hypokalemic alkalosis

-        excess of androgens:

*         female: sexual ambiguity at birth, acne, hirsutism, early puberty, oligo-anovulation, irregular periods, masculine type alopecia

*        male: acne, hirsutism, precocious puberty, infertility.

Sometimes the chronic hypersecretion of ACTH  becomes deregulated and leads to the formation of a secreting adenoma.

Treatment: dexamethasone because it is able to activate the mutated receptor and thus to reduce ACTH hypersecretion.

Anesthetic implications: 

dexamethasone treatment; according to the impact of the disease at the level of the target organs.

References : 

-        Charmandari E, Kino T. 
Chrousos syndrome : a seminal report, a phylogenetic enigma and the clinical implications of glucorticoid signalling changes. 
Eur J Clin Invest 2010; 40: 932-42.

Updated: October 2019