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Journal of Perinatal Medicine

Official Journal of the World Association of Perinatal Medicine

Editor-in-Chief: Dudenhausen, Joachim W.

Editorial Board Member: / Bancalari, Eduardo / Greenough, Anne / Genc, Mehmet R. / Chervenak, Frank A. / Chappelle, Joseph / Bergmann, Renate L. / Bernardes, J.F. / Bevilacqua, G. / Blickstein, Isaac / Cabero Roura, Luis / Carbonell-Estrany, Xavier / Carrera, Jose M. / D`Addario, Vincenzo / D'Alton, MD, Mary E. / Dimitrou, G. / Grunebaum, Amos / Hentschel, Roland / Köpcke, W. / Kawabata, Ichiro / Keirse, M.J.M.C. / Kurjak M.D., Asim / Levene, Malcolm / Lockwood, Charles J. / Marsal, Karel / Makatsariya, Alexander / Nishida, Hiroshi / Papp, Zoltán / Pejaver, Ranjan Kumar / Pooh, Ritsuko K. / Saugstad, Ola D. / Schenker, Joseph G. / Sen, Cihat / Seri, MD, PhD, HonD, Istvan / Vetter, Klaus / Winn, MD, Hung N. / Young, Bruce K. / Zimmermann, Roland

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IMPACT FACTOR 2013: 1.425

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Neonatal screening for congenital hypothyroidism in Hessen, Germany: efficiency of the screening program and school achievement of 129 children at an age of 8–12 years

Stefan Höpfner1 / Bernhard Höpfner2 / Ernst W. Rauterberg3

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Corresponding author: Prof. Dr. med. Ernst W. Rauterberg Screening-Zentrum Hessenan der Universitätskinderklinik Giessen Feulgenstr 12 35392 Giessen Germany Tel.: +49/641/99-43681 Fax +49/641/99-43699

Citation Information: Journal of Perinatal Medicine. Volume 33, Issue 6, Pages 543–548, ISSN (Online) 1619-3997, ISSN (Print) 0300-5577, DOI: 10.1515/JPM.2005.097, December 2005

Publication History

Received:
August 17, 2005
Revised:
June 30, 2005
Accepted:
July 22, 2005

Abstract

Status and school achievement of 129 children born in Hessen between 1988 and 1992 and notified by a repeatedly elevated concentration of TSH in neonatal screening were evaluated. Interviews of mothers, teachers and pediatricians were used to score the developmentand educational achievements, respectively. A total of 298,175 newborns were screened and the incidenceof permanent congenital hypothyroidism (PCH) was 1: 3,313 (n=90). The female/male ratio was 1.37:1.

In the 69 PCH cases with complete data, athyreosis (52%), hypoplasia (32%), dyshormogenesis (9%) and ectopia (7%) were identified as etiologies. The mean age at start of therapy decreases from day 15 in 1988 to day 9 in 1992; however, 27% of PCH children showed reduced psychomotor development as scored by their pediatrician and 11% attended a special school for educationally subnormal children. Approximately 25% of the children had lower educational achievements irrespective of the school type. Our finding of a relatively high percentage of PCH children with subnormal development points to a failure in disease management. A follow-up program including repeated serum TSH monitoring and yearly examinations by pediatric endocrinologists and supervision by the regional screening center is necessary to ensure the long-term efficacy of neonatal screening for congenital hypothyroidism.

Keywords: Congenital hypothyroidism; etiology; familial disposition; psychomotor and educational development; screening

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