Four Clinical Variants of Congenital Adrenal Hyperplasia.

Three clinical types of congenital adrenogenital virilism due to adrenal hyperplasia have now been well defined. These are simple virilization, virilization with excessive sodium loss and danger to life and virilization combined with hypertension. Clinical subvariants have also been described in association with hypoglycaemia (White and Sutton, 1951; Wilkins, Crigler, Silverman, Gardner and Migeon, 1952), with periodic fever (Gonzales and Gardner, 1956; Gardner and Migeon, 1959) and with the late onset of sodium loss (Cara and Gardner, 1960). More recently Bongiovanni (1962) has described a variant that, when occurring in males, is characterized by incomplete masculinization, hypospadias and usually severe sodium loss, although in females it leads to the familiar virilism. The treatment of congenital adrenal hyperplasia has been much simplified since Wilkins, Lewis, Klein and Rosemberg (1950) showed that cortisone decreased the urinary 17-oxosteroids. Deoxycorticosterone acetate (D.C.A.) in conjunction with cortisone and increased dietary salt usually control sodium loss. However, some cases have proved to be resistant to cortisone, though not to the newer steroid analogues, while others have failed to respond to seemingly adequate steroid replacement. The adrenocortical enzyme defects underlying the principal types of adrenogenital virilism have been extensively investigated and the subject has been reviewed recently (Bongiovanni and Eberlein, 1961). However, the occurrence of further clinical subvariants indicates the need for separate clinical and biochemical elucidation of each case as a guide to adequate or optimum treatment. The following four cases serve to emphasize these facts. As far as is known, Case 4 is the first of its kind to be described in this country. Case Reports