What is Familial Glucocorticoid Deficiency?

Familial Glucocorticoid Deficiency is a pathological condition of the adrenal glands in which the adrenal glands do not produce the desired amount of hormones required for adequate functioning of the body.

These hormones are called as Glucocorticoids. Glucocorticoids are a combination of cortisol and corticosterone and play a vital role in normal functioning of the immune system of the body. They also help regulate the blood sugar levels in the body.

Glucocorticoids also help activating neurotransmitters in sending to and from the brain. A deficiency of the Glucocorticoid tends to result in several symptoms to include a decrease in blood sugar levels, a condition called as hypoglycemia.

The symptoms of Familial Glucocorticoid Deficiency become evident in early infancy. The child may also fail to meet the milestones on time with failure to thrive. If the condition is left untreated the child may go on to develop potentially serious symptoms like seizures as a result of hypoglycemia due to Familial Glucocorticoid Deficiency.

Learning disability and various other neurological abnormalities are also seen with children with Familial Glucocorticoid Deficiency. Hyperpigmentation with the skin color of the affected child being darker than the rest of the family members is also a presenting feature of Familial Glucocorticoid Deficiency.

What is Familial Glucocorticoid Deficiency?

What are the Causes of Familial Glucocorticoid Deficiency?

Familial Glucocorticoid Deficiency is majority of the cases is caused due to a malfunction in the ACTH receptor which results in the cells of the adrenal cortex not being able to respond to the ACTH hormones resulting in Familial Glucocorticoid Deficiency.

The gene responsible for this abnormality or malfunction is called the MC2R gene, the mutation of which is the primary reason for development of Familial Glucocorticoid Deficiency in about 30% percent of cases.

A mutation in the MRAP gene is responsible for Familial Glucocorticoid Deficiency in about 25 of the cases. There are several other genes like the NNT and TXNRD2 genes which are responsible for the remaining cases of Familial Glucocorticoid Deficiency.

What are the Symptoms of Familial Glucocorticoid Deficiency?

The symptoms of Familial Glucocorticoid Deficiency begin in early infancy and include low blood sugar levels on a consistent basis. This condition is called hypoglycemia. The child may also exhibit symptoms of jaundice with yellowing of the skin.

A child with Familial Glucocorticoid Deficiency will also be prone to frequent infections as the immune system of the child will be compromised due to Familial Glucocorticoid Deficiency.

The child will also not be able to achieve developmental milestones on time and able to achieve the appropriate weight and height for the age of the child due to Familial Glucocorticoid Deficiency. Hyperpigmentation of the skin is also one of the symptoms of Familial Glucocorticoid Deficiency.

How is Familial Glucocorticoid Deficiency Diagnosed?

The diagnosis of Familial Glucocorticoid Deficiency is usually based on the physical findings and laboratory testing showing low levels of blood sugar and increased bilirubin levels. Genetic testing will be done which will confirm the mutation of the genes responsible for causing the condition and thus confirm the diagnosis of Familial Glucocorticoid Deficiency.

How is Familial Glucocorticoid Deficiency Treated?

The front line treatment for Familial Glucocorticoid Deficiency is replacement therapy with oral hydrocortisone. This in most cases normalizes the cortisol levels and regulates to some extent the levels of ACTH. The dose of this medication needs to be adjusted in situations when the child is in need of surgery or in situations of frequent infections.

In such situations, injections of hydrocortisone should be readily available in case of an emergency. It is extremely vital to be absolutely ready for cases of hypoglycemic crisis in children with Familial Glucocorticoid Deficiency. Life long treatment is required for individuals affected with Familial Glucocorticoid Deficiency.

What is the Prognosis for Familial Glucocorticoid Deficiency?

The prognosis for Familial Glucocorticoid Deficiency is usually good if the condition is diagnosed and treated early and appropriately. However, the prognosis becomes significantly guarded in cases where conditions like hypoglycemia is left untreated which may result in potentially serious complications like seizures and other neurological conditions which may put the life of the patient at risk as a result of Familial Glucocorticoid Deficiency.

Written, Edited or Reviewed By:

, MD, FFARCSI

Last Modified On: September 26, 2017

Pain Assist Inc.

Pramod Kerkar
  Note: Information provided is not a substitute for physician, hospital or any form of medical care. Examination and Investigation is necessary for correct diagnosis.

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