Abstract
Summary Isolation and identification of 3β,16α-Dihydroxypregn-5-ene-20-one (16 OH pregnenolone) in the urine of 2 young infants are described. Patient 1, a female pseudohermaphrodite with CAH, excreted 3.7–8.1 mg/day prior to adrenal suppression therapy. Patient 2, an endocrinologically normal newborn male with intestinal obstruction, excreted 0.21–0.81 mg/day. It is concluded that the high excretion of 16 OH pregnenolone in the patient with CAH is an exaggeration of the normal neonatal pattern secondary to the marked adrenal ACTH stimulation in untreated patients with CAH.