Английская Википедия:Glucocorticoid deficiency 1
Шаблон:Further Шаблон: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.Шаблон:Cn
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.Шаблон:Cn
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.Шаблон:Citation needed
References
External links
- GCCD1 Шаблон:OMIM
- GCCD2 Шаблон:OMIM
- GCCD3 Шаблон:OMIM
Шаблон:Adrenal gland disorder Шаблон:Defects of cholesterol and steroid metabolism Шаблон:Authority control
- Английская Википедия
- Adrenal gland disorders
- Cholesterol and steroid metabolism disorders
- Endocrine-related cutaneous conditions
- Autosomal recessive disorders
- Congenital disorders of endocrine system
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