Prolonged survival without therapy in congenital adrenal hypoplasia
I. N. Sills, M. L. Voorhess, M. H. MacGillivray and R. E. Peterson
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.
