Neonatal screening for congenital adrenal hyperplasia: transitory elevation of 17-hydroxyprogesterone.

Aim: The aim of the study was to identify patients with transitory elevation (TE) of 17-hydroxyprogesterone (17-OHP) using neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OHD) and to compare them with patients with 21-OHD.

Methods: This was a retrospective study of patients with high 17-OHP levels detected during newborn screening in Madrid, Spain.

Results: 17-OHP levels were significantly higher in the 33 21-OHD patients, who tended to present hyponatraemia and hyperkalemia.