Glucocorticoid deficiency 1

Glucocorticoid deficiency 1 (pronounced: gloo·ko·kor·ti·koid de·fi·shen·see 1) is a rare endocrine disorder characterized by insufficient production of glucocorticoids, a type of steroid hormone, by the adrenal glands. The condition is also known as familial glucocorticoid deficiency or hereditary unresponsiveness to adrenocorticotropic hormone.

Etymology

The term "glucocorticoid" is derived from early observations that these hormones were involved in glucose metabolism. The suffix "-oid" indicates "similar to". "Deficiency" refers to the lack or shortage of something. The "1" in "Glucocorticoid deficiency 1" signifies that it is the first type of this disorder identified.

Symptoms

The symptoms of Glucocorticoid deficiency 1 can vary but often include hypoglycemia, recurrent infections, and failure to thrive. Other symptoms may include hyperpigmentation, low blood pressure (hypotension), and fatigue.

Causes

Glucocorticoid deficiency 1 is caused by mutations in the MC2R gene. This gene provides instructions for making a protein that is essential for normal responses to adrenocorticotropic hormone (ACTH), which stimulates the adrenal glands to produce glucocorticoids.

Diagnosis

Diagnosis of Glucocorticoid deficiency 1 is based on clinical symptoms, blood tests showing low levels of cortisol and high levels of ACTH, and genetic testing confirming a mutation in the MC2R gene.

Treatment

Treatment for Glucocorticoid deficiency 1 typically involves lifelong hormone replacement therapy to replace the deficient glucocorticoids. This usually includes taking hydrocortisone or another type of glucocorticoid medication.

See also

• Glucocorticoid
• Adrenal gland
• Endocrine disorder
• MC2R gene
• Adrenocorticotropic hormone

External links

• Medical encyclopedia article on Glucocorticoid deficiency 1
• Wikipedia's article - Glucocorticoid deficiency 1

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