- Source: Glucocorticoid deficiency 1
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.
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 (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 Online Mendelian Inheritance in Man (OMIM): 202200
GCCD2 Online Mendelian Inheritance in Man (OMIM): 607398
GCCD3 Online Mendelian Inheritance in Man (OMIM): 609197
Kata Kunci Pencarian:
- Glucocorticoid deficiency 1
- Glucocorticoid deficiency
- Glucocorticoid
- Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency
- Adrenal insufficiency
- Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Adrenocorticotropic hormone deficiency
- Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
- Laron syndrome
- Lipoid congenital adrenal hyperplasia
