title: A pilot study for neonatal screening of congenital adrenal hyperplasia due to 21-hydroxylase and 11-beta-hydroxylase deficiency in Campania region.
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.
authors.affiliation: Centro di Endocrinologia ed Oncologia Sperimentale del C.N.R., Dipartimento di Biologia e Patologia Cellulare e Molecolare, II Facoltà di Medicina e Chirurgia, Napoli, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Valentino
authors.forename: A P
authors.initials: AP
authors.lastname: Tommaselli
authors.forename: R
authors.initials: R
authors.lastname: Rossi
authors.forename: G
authors.initials: G
authors.lastname: Lombardi
authors.forename: S
authors.initials: S
authors.lastname: Varrone
mesh_terms: D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000188:drug therapy / Q000201:enzymology; D002648:Child; D002675:Child, Preschool; D003350:Cortodoxone / Q000378:metabolism; D005260:Female; D006801:Humans; D006908:Hydroxyprogesterones / Q000378:metabolism; D007231:Infant, Newborn; D007558:Italy; D008297:Male; D015997:Neonatal Screening; D010865:Pilot Projects; D012710:Serum Albumin, Bovine / Q000378:metabolism; D013250:Steroid Hydroxylases / Q000172:deficiency*
chemical_list: D006908:Hydroxyprogesterones; D012710:Serum Albumin, Bovine; D013250:Steroid Hydroxylases; D003350:Cortodoxone