Search results
Results from the WOW.Com Content Network
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.
Glucocorticoid deficiency can be caused by inherited genetic disorders that affect the production of cortisol in the adrenal glands, such as familial glucocorticoid deficiency (FGD). [3] FGD is a group of monogenic recessive disorders caused by disease-causing variants in genes involved in cortisol biosynthesis. [4]
Individuals who have generalized glucocorticoid resistance may exhibit biochemical hypercortisolism in the absence of Cushing's syndrome symptoms. [6] The condition's clinical phenotype varies from cases with no symptoms to signs of excess mineralocorticoids in the body such as hypokalemic alkalosis and hypertension and/or androgen excess, including oligospermia in males, menstrual ...
Mutations in the NNT gene have been associated to familial glucocorticoid deficiency 1, a severe autosomal recessive disorder in human characterized by insensitivity to adrenocorticotropic hormone action on the adrenal cortex and an inability of the adrenal cortex to produce cortisol [12] Glucocorticoid deficiency 1 usually presents in neonatal ...
The mutations in the MRAP gene caused the congenital disorder familial glucocorticoid deficiency type 2 (FGD-2). FGD-2 is an autosomal recessive disease with early childhood onset of recurrent infections, hypoglycaemia, skin hyperpigmentation, and failure to thrive due to low glucocorticoids levels. If left untreated, it could be fatal.
Glucocorticoid remediable aldosteronism also describable as aldosterone synthase hyperactivity, is an autosomal dominant disorder in which the increase in aldosterone secretion produced by ACTH is no longer transient. It is a cause of primary hyperaldosteronism. [1]
Mutations in this receptor cause familial glucocorticoid deficiency (FGD) type 1, in which patients have high levels of serum ACTH and low levels of cortisol. [19] [20] Mutation of the receptor gene causes 25% of FGD, and mutation on the MRAP gene causes 20% of FGD. Mutations of ACTH can also contribute to this pathology: mutation of the ...
Genetic: 2-methylbutyryl-coenzyme A dehydrogenase deficiency, ... Familial glucocorticoid deficiency, Familial hyperinsulinemic hypoglycemia type 3, ...