Prolonged survival without therapy in congenital adrenal hypoplasia

A diagnosis of congenital adrenal hypoplasia was established in a male child at 3 years of age. Although there was biochemical evidence of mineralocorticoid deficiency when he was 2 months old, no definite glucocorticoid deficiency was demonstrated. The child thrived well without replacement hormone therapy until he contracted an illness associated with vomiting. Subsequent tests confirmed the existence of both glucocorticoid and mineralocorticoid deficiencies due to adrenal hypoplasia. This case and the other reported in the literature point out that the glucocorticoid deficiency in congenital adrenal hypoplasia may become progressively more severe with time. Congenital adrenal hypoplasia may be the correct diagnosis in cases mistakenly diagnosed as acquired adrenal insufficiency.