FaCD Online Syndrome Fact Sheet

Last updated: 05 Mar 2008

Name: ACTH-independent macronodular adrenal hyperplasia

Synonym: AIMAH, Cushing disease, Adrenal, Familial

Mode of Inheritance: spor / AD

Genes

GNAS1, mapped to 20q13.2

Tumor features

macronodular adrenal hyperplasia

Non-tumor features

adrenal dysplasia
adrenal hyperplasia

Comment

AIMAH cases are usually sporadic, causing Cushing disease generally in 5th or 6th decade.Affected siblings with Cushing disease caused by primary (ACTH independent) adrenal, often bilateral, nodular hyperplasia and dysplasia have been observed.[1-5]. Somatic GNAS1 mutations have been observed in isolated AIMAH cases.

References

[1] Christopoulos S, Bourdeau I, Lacroix A. Clinical and subclinical ACTH-independent macronodular adrenal hyperplasia and aberrant hormone receptors. Hormone research 2005; 64(3):119-31.
[2] Donaldson MDC, Grant DB, O'Hare MJ, Shackleton CHL. Familial congenital Cushing's syndrome due to bileteral nodular adrenal hyperplasia. Clin Endocrinol 1981; 14:519-526.
[3] Hodge BO, Froesch TA. Familial Cushing's syndrome: Micronodular adrenocortical dysplasia. Arch Intern Med 1988; 148:1133-1136.
[4] Findlay JC, Sheeler LR, Engeland WC, Aron DC. Familial adrenocorticotropin-independent cushing's syndrome with bilateral macronodular adrenal hyperplasia. J Clin Endocrinol Metab 1993; 76(1):189-191.
[5] Teding van Berkhout F, Croughs RJM, Wulffraat NM, Drexhage HA. Familial cushing's syndrome due to nodular adrenocortical dysplasia is an inherited disease of immunological origin. Clin Endocrinol 1989; 31:185-191.