SNP Shot: Genomic Insights

Familial glucocorticoid deficiency is a disorder where the adrenal glands, situated above each kidney, fail to produce sufficient glucocorticoid hormones. These hormones, such as cortisol and corticosterone, are vital for a healthy immune system, maintaining normal blood glucose levels, facilitating nerve cell communication in the brain, and performing numerous other bodily functions.

The lack of adrenal hormones (adrenal insufficiency) is responsible for the symptoms of familial glucocorticoid deficiency. These symptoms usually appear in infancy or early childhood. Low blood sugar (hypoglycemia) is often the first symptom in affected children. This hypoglycemia can lead to a failure to thrive, meaning they don't grow and gain weight as expected. Untreated hypoglycemia can result in seizures, learning disabilities, and other neurological problems. Prolonged and untreated hypoglycemia can cause irreversible neurological damage and even death. Other characteristics of familial glucocorticoid deficiency may include frequent infections and skin that is darker than that of other family members (hyperpigmentation).

Familial glucocorticoid deficiency has several forms, each stemming from a different genetic mutation.

Inheritance:

This condition follows an autosomal recessive inheritance pattern. This means that an individual must inherit a mutated copy of the responsible gene from both parents to develop the condition. The parents, who each carry only one copy of the mutated gene, are typically asymptomatic.