- ACTH deficiency is usually secondary to pituitary hypoplasia, destructive lesions such as craniopharyngioma or congenital defects.
- Chronic idiopathic adrenocortical insufficiency caused by damage to the adrenal glands is rare in children
- Diag - Low serum Na+, cl- with hyperkalemia.
- Increased urinary Na+ Cl- and decreased K+
- Calcification on x-ray abdomen
Familial Glucocorticoid Deficiency
- This form of chronic adrenal insufficiency is characterized by isolated deficiency of glucocorticoids, elevated levels of ACTH, and normal aldosterone production
- The salt-losing manifestations present in most other forms of adrenal insufficiency do not occur; instead, patients present primarily with hypoglycemia, seizures, and increased pigmentation during the 1st decade of life.
- The disorder affects both sexes equally and is inherited in an autosomal recessive manner.
- There is marked adrenocortical atrophy with relative sparing of the zona glomerulosa.
- A number of mutations in the gene for the ACTH receptor have been described in some (approximately 40%) but not all of these patients.
- These patients donâ€™t present with features of mineralocorticoid deficiency (shock, dehydration, low sodium and high potassium); which are usually seen in CAH due to 21 alpha hydroxylase deficiency.