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

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Abstract

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.

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Authors and Affiliations

  1. 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

    R. Valentino & S. Varrone

  2. Dipartimento di Patologia Sistematica, II Facoltà di Medicina e Chirurgia, Napoli, Italy

    A. P. Tommaselli (Cattedra di Endocrinologia), R. Rossi (Cattedra di Endocrinologia) & G. Lombardi (Cattedra di Endocrinologia)

Authors
  1. R. Valentino
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  2. A. P. Tommaselli
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  3. R. Rossi
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  4. G. Lombardi
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  5. S. Varrone
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Valentino, R., Tommaselli, A.P., Rossi, R. et al. A pilot study for neonatal screening of congenital adrenal hyperplasia due to 21-hydroxylase and 11-β-hydroxylase deficiency in Campania region. J Endocrinol Invest 13, 221–225 (1990). https://doi.org/10.1007/BF03349544

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  • DOI: https://doi.org/10.1007/BF03349544

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