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
Pathology
Microscopic colitis is characterized by an increase in inflammatory cells, particularly lymphocytes, in colonic biopsies with an otherwise normal appearance and architecture of the colon. Inflammatory cells are increased both in the surface epithelium ("intraepithelial lymphocytes") and in the lamina propria. The key feature is more than 20 intra-epithelial lymphocytes per 100 epithelial cells. These are the principal features of lymphocytic colitis. An additional distinguishing feature of collagenous colitis is a thickened subepithelial collagen layer, which may be up to 30 micrometres thick, that occurs in addition to the features found in lymphocytic colitis. The fact that the two types of microscopic colitis share many features including epidemiology, risk factors and, response to therapy has led to the suggestion that they are actually subtypes of the same disease. Differential diagnosis
Differential diagnoses, which should be ruled out, include bile acid diarrhea, lactose malabsorption, celiac disease, Crohns disease, ulcerative colitis, and infectious colitis. Treatment
Lymphocytic and collagenous colitis have both been shown in randomized, placebo-controlled trials to respond well to budesonide, a glucocorticoid. Budesonide formulated to be active in the distal colon and rectum is effective for both active disease and in the prevention of relapse. However, relapse occurs frequently after withdrawal of therapy.Studies of a number of other agents including antidiarrheals, bismuth subsalicylate (Pepto-Bismol), mesalazine/mesalamine (alone or in combination with cholestyramine), systemic corticosteroids, cholestyramine, immunomodulators, and probiotics have shown to be less effective than budesonide for treating both forms of microscopic colitis.Anti-TNF inhibitors.