Abstract
A multiple screening program to establish the frequency of congenital hypothyroidism (CH), phenylketonuria (PKU), maple syrup urine disease (MSUD), homocystinuria and hypertyrosinemia in endemic and sporadic goitrous regions of Italy is being carried out. Valine, methionine, leucine, isoleucine, tyrosine and phenylalanine, eluted from a single spot and separated by column chromatography, are measured, using whole blood adsorbed on filter paper. CH is detected by RIA assay of TSH eluted from dried blood spot. A cut-off of 100 gmU/ml for TSH is used providing a recall rate of 0.38%. Out of 116,000 newborn infants screened for àminoacidopathies (since 1974), 16 PKU patients, 3 affected by MSUD, 2 homocystinuric babies have been detected. Out of 25,400 newborn infants screened for CH, 5 patients were affected by permanent CH and 29 by transient hyperthyrotropinemia. Thus PKU shows a frequency of 1∶7,200 newborn infants, and permanent congenital hypothyroidism 1∶5,080. The coordination of screening programs for congenital metabolic diseases in a single central unit allows: — the unification of the input of samples and output of data in a single data bank; — a minimization of the physical and psychological stress to the patients and their families; — and a more satisfactory cost/benefit ratio.
Similar content being viewed by others
References
Scriver C.R., Feingold M., Mamues P., Childs B., Dussault J.H., Holtzman N.A., Justice P., Matalon R. Screening for congenital metabolic disordes in the newborn infant: congenital deficiency of thyroid hor mone and hyperphenylalaninemia. Pediatrics (Suppl) 60: 389, 1977.
Fisher D.A., Dussault J.H., Foley T.P. Jr., Klein A.H., La Branchi S., Larsen P.R., Mitchell M.I., Murphey W.H., Walfish P.G. Screening for congenital hypothyroidism: results of screening one million North American infants. J. Pediatr. 94: 700, 1979.
Delange F., Beckers C., Höfer R., König M.P., Monaco F., Varrone S. Neonatal screening for congenital hypothyroidism in Europe. Report of the Newborn Committee of the European Thyroid Association Acta Endocrinol. (Kbh.) (Suppl. 223): 90, 1970.
United States General Accounting Office. Preventing mental retardation — more can be done. Government Printing Office, Washington, D.C., 1977.
Filetti S., Pezzino V., Squatrito S., Lisi E., Vigneri R., Delange R. T3 rT3, TSH radioimmunoassay as a screening procedure for congenital hypothyroidsm. J. Nucl. Biol. Med. All. Sci. 21: 69, 1977.
Antonozzi I., Dominici R., Monaco F. A multidisciplinary approach to the screening for congenital metabolic disorders on an interregional basis. I. Preliminary report. In: La Cauza C., Root A.W. (Eds.). Problems in Pediatric Endocrinology. Academic Press, 1980, p. 289.
Bonnafé P., Lemonnier A.A., Charpentier C. In: Les aminoacidopathies. Proc. Journées Internat, en Pharmacie, Grenoble 1, 196, 1972.
Antonozzi I., Morisi C., Del Castello P.G., Ceccarelli P. Screening neonatale per le aminoacidopatie con l’uso di un amino-acido analyzer. Determinazione dei valori di riferimento e valutazione statistica. Ann. Ist. Superiore Sanità, 14: 4, 1979.
Sorcini M., Fiore L., Tomarchio S., Carta S., Dominici R., Monaco F. Pilot screening of neonatal hypothyroidism in Italy: preliminary results. I Congresso Società Italiana Endocrinologia e Diabeto logia Pediatrica, Parma 1978. Serono Symposia Ed., p. 64, 1978.
Antonozzi I., Del Castello P.G., Santagata G. Lo screening neonatale di massa per le aminoacido patie. Neuropsichiatria Infantile 203: 666, 1978.
Illig R., Torresani T., Sobradillo B. Early detection of neonatal hypothyroidism by serial TSH determination in dried blood. Helv. Paediat. Acta 32: 289, 1977.
Dussault J.H., Morisette J., Letarte J., Guyda H., Laberge C. Modification of a screening program for neonatal hypothyroidism. J. Pediatr. 92: 274, 1978.
Delange F., Dodion J., Wolter R., Bourdoux P., Dalhem A., Glinoer D., Ermans A.M. Transient hypothyroidism in the newborn infant. J. Pediatr. 92: 974, 1978.
Stubbe P., Gata J., Heidemann P., Muhlen A., Hesh R. Thyroxine-binding globulin, triiodothyronine, thyroxine and thyrotropin in newborn infants and children. Horm. Metab. Res. 10: 58, 1978.
Beckers C., Cornette C., François B., Bouckaert A., Lechat M. Thyroxine and thyrotropin radioimmunoassay using dried blood samples on filter paper for screening of neonatal hypothyroidism. International Symposium on Radioimmunoassay and Related Procedures in Medicine. Intern. Atom. Energy AG. 2: 341, 1978.
Beckers C., Cornette C., François B., Bouckaert A. Screening for neonatal hypothyroidism by thyroxine and thyrotropin radioimmunoassays using dried blood samples on filter paper. Clin. Endocrinol. (Oxf.) 10: 567, 1979.
Alm J., Larsson A., Zetterstrom R. Congenital hypothyroidism in Sweden. Acta Paediatr. Scand. 67: 1, 1978.
Grover R., Wethers D., Shahidi S., Grossi M., Goldberg D., Davidow B. Evaluation of the expanded newborn screening program in N.Y. City. Pediatrics 61, 740, 1978.
Holtzman N.A., Meek A.G., Mellitz E.D. Neonatal screening for phenylketonuria I. Effectiveness. J.A.M.A. 229: 667, 1974.
Komrower G.M. The philosophy and pratice of screening for inherited diseases. Pediatrics 53: 182, 1974.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Antonozzi, I., Dominici, R., Andreoli, M. et al. Neonatal screening in Italy for congenital hypothyroidism and metabolic disorders: hyperphenylalaninemia, maple syrup urine disease and homocystinuria. J Endocrinol Invest 3, 357–363 (1980). https://doi.org/10.1007/BF03349371
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/BF03349371