caa a22 4500 465804454 CHVBK 20180323112100.0 cr unu---uuuuu 170327e19900301xx s 000 0 eng 10.1007/BF03349544 doi (NATIONALLICENCE)springer-10.1007/BF03349544 A pilot study for neonatal screening of congenital adrenal hyperplasia due to 21-hydroxylase and 11-β-hydroxylase deficiency in Campania region [Elektronische Daten] [R. Valentino, A. Tommaselli, R. Rossi, G. Lombardi, S. Varrone] A neonatal screening for both 21-hydroxylase and 11-β-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-α-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-β-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. Italian Society of Endocrinology (SIE), 1990 CAH nationallicence neonatal screening nationallicence 21-hydroxylase deficiency nationallicence 11-β-hydroxylase deficiency nationallicence Valentino R. Centro di Endocrinologia ed Oncologia Sperimentale del C.N.R., Dipartimento di Biologia e Patologia Cellulare e Molecolare, II Facoltà di Medicina e Chirurgia, Via Enrico Alvino 128, 80129, Napoli, Italy aut Tommaselli A. Dipartimento di Patologia Sistematica, II Facoltà di Medicina e Chirurgia, Napoli, Italy aut Rossi R. Dipartimento di Patologia Sistematica, II Facoltà di Medicina e Chirurgia, Napoli, Italy aut Lombardi G. Dipartimento di Patologia Sistematica, II Facoltà di Medicina e Chirurgia, Napoli, Italy aut Varrone S. Centro di Endocrinologia ed Oncologia Sperimentale del C.N.R., Dipartimento di Biologia e Patologia Cellulare e Molecolare, II Facoltà di Medicina e Chirurgia, Via Enrico Alvino 128, 80129, Napoli, Italy aut Journal of Endocrinological Investigation Springer International Publishing 13/3(1990-03-01), 221-225 0391-4097 13:3<221 1990 13 40618 https://doi.org/10.1007/BF03349544 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF03349544 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Valentino R. Centro di Endocrinologia ed Oncologia Sperimentale del C.N.R., Dipartimento di Biologia e Patologia Cellulare e Molecolare, II Facoltà di Medicina e Chirurgia, Via Enrico Alvino 128, 80129, Napoli, Italy aut NATIONALLICENCE 700 1- Tommaselli A. Dipartimento di Patologia Sistematica, II Facoltà di Medicina e Chirurgia, Napoli, Italy aut NATIONALLICENCE 700 1- Rossi R. Dipartimento di Patologia Sistematica, II Facoltà di Medicina e Chirurgia, Napoli, Italy aut NATIONALLICENCE 700 1- Lombardi G. Dipartimento di Patologia Sistematica, II Facoltà di Medicina e Chirurgia, Napoli, Italy aut NATIONALLICENCE 700 1- Varrone S. Centro di Endocrinologia ed Oncologia Sperimentale del C.N.R., Dipartimento di Biologia e Patologia Cellulare e Molecolare, II Facoltà di Medicina e Chirurgia, Via Enrico Alvino 128, 80129, Napoli, Italy aut NATIONALLICENCE 773 0- Journal of Endocrinological Investigation Springer International Publishing 13/3(1990-03-01), 221-225 0391-4097 13:3<221 1990 13 40618 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer