Medicine:Glucocorticoid deficiency 1
| Glucocorticoid deficiency 1 | |
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| Other names | FGD or GCCD |
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| Glucocorticoid deficiency 1 is inherited in an autosomal recessive manner | |
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.[citation needed]
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.[citation needed]
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
- ↑ "Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor". The Lancet 341 (8843): 461–462. October 1993. doi:10.1016/0140-6736(93)90208-X. PMID 8094489.
- ↑ "Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene". J. Clin. Invest. 92 (5): 2458–2461. November 1993. doi:10.1172/JCI116853. PMID 8227361.
- ↑ "Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2". Nature Genetics 37 (2): 166–170. February 2005. doi:10.1038/ng1501. PMID 15654338.
- ↑ "Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency". J. Clin. Endocrinol. Metab. 94 (10): 3865–3871. October 2009. doi:10.1210/jc.2009-0467. PMID 19773404. PMC 2860769. http://jcem.endojournals.org/cgi/pmidlookup?view=long&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
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| External resources |
Template:Adrenal gland disorder
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