Glucocorticoid deficiency 1 is an
adrenocortical failure characterized by low levels of plasma
cortisol
Cortisol is a steroid hormone, in the glucocorticoid class of hormones. When used as a medication, it is known as hydrocortisone.
It is produced in many animals, mainly by the ''zona fasciculata'' of the adrenal cortex in the adrenal gland ...
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).
FGD type 2 is caused by mutations in the
MC2R accessory protein (MRAP).
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
The steroidogenic acute regulatory protein, commonly referred to as StAR (STARD1), is a transport protein that regulates cholesterol transfer within the mitochondria, which is the rate-limiting step in the production of steroid hormones. It is p ...
(StAR), with similarity to the nonclassic form of
lipoid congenital adrenal hyperplasia.
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
External links
* GCCD1
* GCCD2
* GCCD3
Adrenal gland disorders
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