Hypertension in a neonate with 11 beta-hydroxylase deficiency.
A female newborn infant with ambiguous genitalia was found to have hypertension (121/82 mm Hg) immediately after birth. The plasma testosterone (T) (0.73 nmol/l), delta 4-androstenedione (delta 4-A) (5.9 nmol/l), dehydroepiandrosterone (DHEA) (8.9 nmol/l), as well as 17 OH-hydroxyprogesterone (17 OHP) (152 nmol/l) were elevated. The diagnosis of 11 beta-hydroxylase deficiency was finally established on the basis of elevated plasma eleven-deoxycortisol (compound S) (greater than 0.6 mumol/l) and confirmed by the normalisation of the blood pressure during hydrocortisone therapy. Our case is probably the youngest patient with 11 beta-hydroxylase deficiency in whom the hypertension was found at birth.
D000312:Adrenal Hyperplasia, Congenital / Q000188:drug therapy / Q000209:etiology*; D005260:Female; D006801:Humans; D006854:Hydrocortisone / Q000627:therapeutic use; D006973:Hypertension / Q000188:drug therapy / Q000209:etiology*; D007231:Infant, Newborn; D013250:Steroid Hydroxylases / Q000172:deficiency*
D013250:Steroid Hydroxylases; D006854:Hydrocortisone