Familial glucocorticoid deficiency
ORPHA:361· ICD-10 E27.1
Definition
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
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy