Glucocorticoid deficiency 1 explained

Synonyms:	FGD or GCCD

Glucocorticoid deficiency 1 is an adrenocortical failure characterized by low levels of plasma cortisol produced by the adrenal gland despite high levels of plasma ACTH. This is an inherited disorder with several different causes which define the type.

FGD type 1 (FGD1 or GCCD1) is caused by mutations in the ACTH receptor (melanocortin 2 receptor; MC2R).^{[1] [2]} FGD type 2 is caused by mutations in the MC2R accessory protein (MRAP).^[3] These two types account for 45% of all cases of FGD.

Some cases of FGD type 3 are caused by mutations in the steroidogenic acute regulatory protein (StAR), with similarity to the nonclassic form of lipoid congenital adrenal hyperplasia.^[4] In this case, a general impairment in not just adrenal steroid production, but gonadal steroid production can affect sexual development and fertility. The causes of other cases of FGD type 3 not due to StAR are currently unknown.

External links

• GCCD1
• GCCD2
• GCCD3

Notes and References

1. 10.1016/0140-6736(93)90208-X . Clark AJ, McLoughlin L, Grossman A . Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor . . 341 . 8843 . 461–462 . October 1993 . 8094489 . 11356360 .
2. Tsigos C, Arai K, Hung W, Chrousos GP . Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene . . 92 . 5 . 2458–2461 . November 1993 . 8227361 . 288430 . 10.1172/JCI116853 .
3. 10.1038/ng1501 . Metherell LA, Chapple JP, Cooray S, David A, Becker C, Ruschendorf F, Naville D, Begeot M, Khoo B, Nurnberg P, Huebner A, Cheetham ME, Clark AJ . Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2 . . 37 . 2 . 166–170 . February 2005 . 15654338 . 19104175 .
4. Metherell LA, Naville D, Halaby G, Begeot M, Huebner A, Nürnberg G, Nürnberg P, Green J, Tomlinson JW, Krone NP, Lin L, Racine M, Berney DM, Achermann JC, Arlt W, Clark AJ . Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency . . 94 . 10 . 3865–3871 . October 2009 . 19773404 . 2860769 . 10.1210/jc.2009-0467 .