A New Male Pseudohermaphroditism Associated with Hypertension due to a Block of 17α-Hydroxylation

A new 17α-hydroxylase deficiency associated with male pseudohermaphroditism without evidence of puberty and severe hypertension due to hypermineralocorticism is reported. The defect was proven by low excretions of 17aα-hydroxysteroids associated with hyperproduction of progesterone, pregnenolone, corticosterone and desoxycorticosterone. Correction of hypertension and of hypokalemic alkalosis was obtained with dexamethasone therapy. Before dexamethasone, aldosterone excretion was low and it remained low after one yr of this treatment. The secretion of 18-hydroxycorticosterone was 6 times increased before dexamethasone therapy and returned to normal after one yr of treatment. Data strongly suggest another defect: 18ol-dehydrogenase deficiency.