Article
A novel presentation of familial glucocorticoid deficiency (FGD) and current literature review.
Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2004
Selva Karin A, LaFranchi Stephen H, Boston Bruce
Abstract excerpt
Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder, which manifests as isolated glucocorticoid deficiency with normal mineralocorticoid function. The disease is secondary to ACTH unresponsiveness, with low serum cortisol concentrations in the presence of markedly elevated ACTH levels. Approximately 40% of patients with FGD have an identifiable mutation in the ACTH receptor gene. The...
Topics
- Adolescent
- Adrenal Insufficiency
- Adrenocorticotropic Hormone
- Age of Onset
- Body Height
- Female
- Glucocorticoids
- Humans
- Metabolic Diseases
- Phenotype
- Receptors, Corticotropin