A NEW HEREDITARY DEFECT IN THE BIOSYNTHESIS OF ALDOSTERONE: URINARY C21-CORTICOSTEROID PATTERN IN THREE RELATED PATIENTS WITH A SALT-LOSING SYNDROME, SUGGESTING AN 18-OXIDATION DEFECT

Abstract

ABSTRACT Two infants with a salt-losing syndrome were observed. They were 5 and 15 weeks old on admission to the hospital. The four parents of these two patients were related. Another 14 year old child in the same family was seen at the age of 3 weeks in the hospital with the same clinical syndrome. All cases gave a good response to deoxycorticosterone acetate (DOCA). External genitalia were normal; total urinary excretion of 17-ketosteroids, 17-ketogenic steroids and 17-hydroxycorticosteroids were normal. The pedigree of the family could be traced back for six generations. The six parents of the three children with the salt-losing syndrome had the same two great-grandparents five generations back. Urinary C21-corticosteroid excretion showed a typical pattern in the infants and the 14 year old child. No aldosterone was detectable. There was a considerable increase in the total »B« compounds: corticosterone (B), 11-dehydrocorticosterone (A) and their tetrahydrometabolites (THA, THB,