Learn About Familial Glucocorticoid Deficiency

What is the definition of 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 levels, help trigger nerve cell signaling in the brain, and serve many other purposes in the body.

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What are the causes of Familial Glucocorticoid Deficiency?

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.

How prevalent is Familial Glucocorticoid Deficiency?

The prevalence of familial glucocorticoid deficiency is unknown.

Is Familial Glucocorticoid Deficiency an inherited disorder?

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.

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What are the latest Familial Glucocorticoid Deficiency Clinical Trials?
Phase 2 Study of Daratumumab Monotherapy in Previously Untreated Patients With Stage 3B Light Chain (AL) Amyloidosis

Summary: This is an open-label, multicenter, Phase 2 study in subjects with newly diagnosed stage 3B light chain (AL) amyloidosis.

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Comparisons of Different Forms of Glucocorticoid on the Recovery of Reproductive Function in Patients With 21α-hydroxylase Deficiency

Summary: The purpose of this study is to conduct an open, randomized controlled clinical trial, evaluating the effects of different dosage forms of glucocorticoid on the Recovery of Reproductive Function in Patients With 21α-hydroxylase Deficiency.

Who are the sources who wrote this article ?

Published Date: February 01, 2015Published By: National Institutes of Health

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