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Familial glucocorticoid deficiency

Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency.

Prevalence

N/A

US Estimated

N/A

Europe Estimated

Age of Onset

Infancy

ICD-10

E27.1

Inheritance Pattern

Autosomal dominant

Autosomal recessive

Mitochondrial/Multigenic

X-linked dominant

X-linked recessive

5 Facts you should know

FACT

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder of adrenal function, characterized by isolated cortisol deficiency despite normal mineralocorticoid production

FACT

Mutations in several genes are implicated, most commonly MC2R (ACTH receptor), MRAP (melanocortin 2 receptor accessory protein), and STAR, which disrupt ACTH signaling or adrenal steroidogenesis

FACT

Clinical features usually present in infancy or early childhood and include recurrent hypoglycemia, hyperpigmentation (from elevated ACTH), recurrent infections, failure to thrive, and seizures

FACT

Electrolytes remain normal, distinguishing FGD from other forms of primary adrenal insufficiency that involve mineralocorticoid deficiency

FACT

Lifelong glucocorticoid replacement therapy is required, typically with hydrocortisone; early recognition and treatment are crucial to prevent adrenal crises and neurological complications from hypoglycemia

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