Familial congenital adrenal hypoplasia.

Congenital adrenal hypoplasia was first described by Sikl (1948). Other reports appeared, and Mitchell and Rhaney (1959) recorded the first occurrence in a male sibship and suggested a familial basis. Boyd and MacDonald (1960) reported the necropsy findings in another pair of brothers who died in the neonatal period. The following report presents two further pairs of brothers born in Scotland who are thought to have familial congenital adrenal hypoplasia. All four cases developed symptoms of adrenal insufficiency in the neonatal period. One of each pair died and necropsy was performed. Both surviving children received steroids for a period, fared reasonably well for some time after withdrawal of steroids, but presented with Addisonian findings in later childhood.