Iatrogenic Cushing's disease in a boy after misdiagnosis of salt-losing virilizing adrenal hyperplasia: Impaired metyrapone response with failure of catch-up growth

Abstract

A boy misdiagnosed as having the sodium-losing form of virilizing adrenal hyperplasia was treated with large doses of glucocorticoids and mineralocorticoids from the newborn period until he was more than 4 years of age. He developed iatrogenic Cushing's syndrome and associated glaucoma and dwarfism. The greatest catch-up linear growth took place when the mineralocorticoid had been discontinued and the glucocorticoid was being reduced, but was only of brief duration. Catch-up in skeletal maturation was greatest after complete withdrawal of steroid medication. At this time there was a normal response of urinary corticosteroids to ACTH stimulation and of serum growth hormone and plasma cortisol to insulin hypoglycemia; cortisol production rate was normal. Plasma cortisol values were in the low-normal range and responses to metyrapone were inadequate, suggesting that this boy's massive exposure to adrenocortical steroids had resulted in selective damage to his pituitary ACTH feedback mechanism. Glaucoma resulted in loss of all sight in the right eye. A boy misdiagnosed as having the sodium-losing form of virilizing adrenal hyperplasia was treated with large doses of glucocorticoids and mineralocorticoids from the newborn period until he was more than 4 years of age. He developed iatrogenic Cushing's syndrome and associated glaucoma and dwarfism. The greatest catch-up linear growth took place when the mineralocorticoid had been discontinued and the glucocorticoid was being reduced, but was only of brief duration. Catch-up in skeletal maturation was greatest after complete withdrawal of steroid medication. At this time there was a normal response of urinary corticosteroids to ACTH stimulation and of serum growth hormone and plasma cortisol to insulin hypoglycemia; cortisol production rate was normal. Plasma cortisol values were in the low-normal range and responses to metyrapone were inadequate, suggesting that this boy's massive exposure to adrenocortical steroids had resulted in selective damage to his pituitary ACTH feedback mechanism. Glaucoma resulted in loss of all sight in the right eye.