glucocorticoid deficiency 4 with or without mineralocorticoid deficiency

A familial glucocorticoid deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NNT gene on chromosome 5p12.

Signs and symptoms

• Increased circulating ACTH level
• Decreased circulating cortisol level
• Seizure
• Failure to thrive
• Hypoglycemia
• Precocious puberty
• Congenital hypothyroidism
• Cryptorchidism
• Renal salt wasting
• Hypoglycemic coma