A pilot study for neonatal screening of congenital adrenal hyperplasia due to 21-hydroxylase and 11-beta-hydroxylase deficiency in Campania region

J Endocrinol Invest. 1990 Mar;13(3):221-5. doi: 10.1007/BF03349544.

Abstract

A neonatal screening for both 21-hydroxylase and 11-beta-hydroxylase deficiencies, responsible for congenital adrenal hyperplasia (CAH), has been conducted in Campania Region, Southern Italy. In 4380 neonates, aged 2-10 days, capillary blood from a heel prick was collected on microfilter paper, and 17-alpha-hydroxyprogesterone (17OHP) measured by radioimmunoassay (RIA) using a highly specific antibody (Ab A). In addition, in 295 of these samples, both 17OHP and 11-deoxycortisol (S) were measured using an anti-deoxycortisol antibody (Ab B) cross-reacting with 17OHP 100%. All results were compared with plasma 17OHP and S levels in 21 patients with diagnosed 21-hydroxylase deficiency and in 5 healthy volunteers on metyrapone test used for blocking the 11-beta-hydroxylase activity. CAH due to 21-hydroxylase deficiency was diagnosed in a female newborn. The assay, based on the antibody reacting with both 17OHP and S, is particularly suitable for wide-scale screening programs enabling the simultaneous detection of two congenital enzyme defects.

MeSH terms

  • Adolescent
  • Adrenal Hyperplasia, Congenital* / diagnosis*
  • Adrenal Hyperplasia, Congenital* / drug therapy
  • Adrenal Hyperplasia, Congenital* / enzymology
  • Child
  • Child, Preschool
  • Cortodoxone / metabolism
  • Female
  • Humans
  • Hydroxyprogesterones / metabolism
  • Infant, Newborn
  • Italy
  • Male
  • Neonatal Screening*
  • Pilot Projects
  • Serum Albumin, Bovine / metabolism
  • Steroid Hydroxylases / deficiency*

Substances

  • Hydroxyprogesterones
  • Serum Albumin, Bovine
  • Steroid Hydroxylases
  • Cortodoxone