Glucocorticoid deficiency 1
Script error: No such module "labelled list hatnote". Template:Infobox medical condition (new) 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.Script error: No such module "Unsubst".
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.Script error: No such module "Unsubst".
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.Script error: No such module "Unsubst".
References
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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
Template:Adrenal gland disorder Template:Defects of cholesterol and steroid metabolism Template:Authority control