Familial congenital adrenal hypoplasia.

Adrenal hypoplasia is an invariable finding in infants with anencephaly. Hypoplastic adrenal glands have been described in infancy associated with congenital hypoplasia of the pituitary gland (Mosier, 1956). S;kl (1948) was probably the first author to describe congenital adrenal hypoplasia unassociated with other congenital abnormalities, though he mentions some similar cases described by earlier authors. Mitchell and Rhaney (1959) were the first authors to describe adrenal cortical hypoplasia in sibs, and all the reported caseswere reviewed recently by Roselli and Barbosa (1965) who added a family with 2 affected sibs. Adrenal failure in early infancy due to congenital defect of the adrenal glands is most commonly due to adrenal hyperplasia, where a variety of enzymatic abnormalities have been described (Prader, 1967). The rare condition of lipoid adrenal hyperplasia, reviewed by O'Doherty (1964), is associated with adrenal insufficiency in infancy and with male pseudohermaphroditism. Congenital adrenal hypoplasia unassociated with other congenital anomalies produces an uncomplicated deficiency of adrenocortical hormones which can be replaced to restore normal metabolic function. A family with this condition is here described. Both parents are healthy and unrelated. The mother was an only child and her mother had no other pregnancies. The father was one of five children; his mother had one miscarriage.