Glucocorticoid deficiency 1
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Familial glucocorticoid deficiency (FGD or GCCD) 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.
References
- ↑ Clark AJL, McLoughlin L, Grossman A (October 1993). "Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor". The Lancet. 341 (8843): 461–462. doi:10.1016/0140-6736(93)90208-X. PMID 8094489.
- ↑ Tsigos C, Arai K, Hung W, Chrousos GP (November 1993). "Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene". J. Clin. Invest. 92 (5): 2458–2461. doi:10.1172/JCI116853. PMC 288430. PMID 8227361.
- ↑ 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 AJL (February 2005). "Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2". Nature Genetics. 37 (2): 166–170. doi:10.1038/ng1501. PMID 15654338.
- ↑ 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 (October 2009). "Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency". J. Clin. Endocrinol. Metab. 94 (10): 3865–3871. doi:10.1210/jc.2009-0467. PMC 2860769. PMID 19773404.
External links
- GCCD1 Online Mendelian Inheritance in Man (OMIM) 202200
- GCCD2 Online Mendelian Inheritance in Man (OMIM) 607398
- GCCD3 Online Mendelian Inheritance in Man (OMIM) 609197
- Online Mendelian Inheritance in Man (OMIM) 202200