Familial Glucocorticoid Deficiency Overview
Learn About Familial Glucocorticoid Deficiency
Familial glucocorticoid deficiency is a condition that occurs when the adrenal glands, which are hormone-producing glands located on top of each kidney, do not produce certain hormones called glucocorticoids. These hormones, which include cortisol and corticosterone, aid in immune system function, play a role in maintaining normal blood sugar (glucose) levels, help trigger nerve cell signaling in the brain, and serve many other purposes in the body.
Mutations in the MC2R, MRAP, and NNT genes account for the majority of cases of familial glucocorticoid deficiency; mutations in other genes, some known and some unidentified, can also cause this condition.
The prevalence of familial glucocorticoid deficiency is unknown.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Louise Metherell practices in London, United Kingdom. Ms. Metherell is rated as an Elite expert by MediFind in the treatment of Familial Glucocorticoid Deficiency. Her top areas of expertise are Familial Glucocorticoid Deficiency, Addison's Disease, Isolated ACTH Deficiency, and Short Stature (Growth Disorders).
Adrian Clark practices in London, United Kingdom. Mr. Clark is rated as an Elite expert by MediFind in the treatment of Familial Glucocorticoid Deficiency. His top areas of expertise are Familial Glucocorticoid Deficiency, Isolated ACTH Deficiency, Addison's Disease, and Triple A Syndrome.
Eirini Meimaridou practices in London, United Kingdom. Ms. Meimaridou is rated as an Elite expert by MediFind in the treatment of Familial Glucocorticoid Deficiency. Her top areas of expertise are Familial Glucocorticoid Deficiency, Isolated ACTH Deficiency, Addison's Disease, and Adrenocortical Carcinoma.
Summary: This is a controlled, open study designed to compare the effects of dual-release hydrocortisone preparations versus conventional glucocorticoid therapy on clinical, anthropometric parameters, metabolic syndrome, hormonal profile, bone status, quality of life, reproductive, sexual and psychological functions and treatment compliance in patients affected by congenital adrenal hyperplasia due to 21 O...
Summary: CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, in...
Published Date: February 01, 2015
Published By: National Institutes of Health