View source for Glucocorticoid deficiency 1

{{Further|Glucocorticoid deficiency}}
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| synonyms        = FGD or GCCD
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| caption         = Glucocorticoid deficiency 1 is inherited in an autosomal recessive manner
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'''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.{{cn|date=May 2022}}

FGD type 1 (FGD1 or GCCD1) is caused by mutations in the [[ACTH receptor]] (melanocortin 2 receptor; MC2R).<ref name="pmid8094489">{{Cite journal |vauthors=Clark AJ, McLoughlin L, Grossman A |date=October 1993 |title=Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor |journal=[[The Lancet]] |volume=341 |issue=8843 |pages=461–462 |doi=10.1016/0140-6736(93)90208-X |pmid=8094489 |s2cid=11356360}}</ref><ref name="pmid8227361">{{Cite journal |vauthors=Tsigos C, Arai K, Hung W, Chrousos GP |date=November 1993 |title=Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene |journal=[[J. Clin. Invest.]] |volume=92 |issue=5 |pages=2458–2461 |doi=10.1172/JCI116853 |pmc=288430 |pmid=8227361}}</ref>  FGD type 2 is caused by mutations in the [[melanocortin 2 receptor accessory protein|MC2R accessory protein]] (MRAP).<ref name="pmid15654338">{{Cite journal |vauthors=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 |date=February 2005 |title=Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2 |journal=[[Nature Genetics]] |volume=37 |issue=2 |pages=166–170 |doi=10.1038/ng1501 |pmid=15654338 |s2cid=19104175}}</ref>  These two types account for 45% of all cases of FGD.{{cn|date=May 2022}}

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]].<ref name="pmid19773404">{{Cite journal |vauthors=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 |date=October 2009 |title=Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency |url=http://jcem.endojournals.org/cgi/pmidlookup?view=long&pmid=19773404 |journal=[[J. Clin. Endocrinol. Metab.]] |volume=94 |issue=10 |pages=3865–3871 |doi=10.1210/jc.2009-0467 |pmc=2860769 |pmid=19773404}}</ref>  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.{{citation needed|date=August 2020}}

==References==
{{Reflist}}

== External links ==
* GCCD1 {{OMIM|202200}}
* GCCD2 {{OMIM|607398}}
* GCCD3 {{OMIM|609197}}
{{Medical resources
|  ICD10           = E27.1
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|  OMIM            = 202200
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|  Orphanet        = 361
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{{Adrenal gland disorder}}
{{Defects of cholesterol and steroid metabolism}}
{{Authority control}}

[[Category:Adrenal gland disorders]]
[[Category:Cholesterol and steroid metabolism disorders]]
[[Category:Endocrine-related cutaneous conditions]]
[[Category:Autosomal recessive disorders]]
[[Category:Congenital disorders of endocrine system]]


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