glucocorticoid deficiency 1

A familial glucocorticoid deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding melanocortin-2 receptor, which is also referred to as adrenocorticotropin receptor, on chromosome 18p11.

Signs and symptoms

• Increased circulating ACTH level
• Decreased circulating cortisol level
• Abnormal response to ACTH stimulation test
• Generalized hyperpigmentation
• Recurrent hypoglycemia
• Coma
• Tall stature
• Seizure
• Failure to thrive
• Recurrent infections