A congenital, familial syndrome of adrenocortical insufficiency without hypoaldosteronism*

Congenital adrenocortical insufficiency is reported in a boy whose male sibling died shortly after birth with no identifiable adrenal tissue at postmortem examination. Evidence is presented to support the belief that this represents a syndrome of congenital, familial, selective hydrocortisone deficiency. Clinical and laboratory investigation of the surviving sibling indicated an apparently complete absence of 17-hydroxycorticosteroid production, even after prolonged ACTH administration, in spite of normal aldosterone excretion while on ad lib. sodium intake.

Suggestions as to a possible etiology in this condition are discussed.