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Case Reports in Pediatrics
Volume 2011, Article ID 369871, 4 pages
http://dx.doi.org/10.1155/2011/369871
Case Report

Congenital Central Hypothyroidism due to a Homozygous Mutation in the TSHβ Subunit Gene

1Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, 79106 Freiburg, Germany
2Department of Pediatrics, Johannes Gutenberg University Medical School, Mainz, Germany
3Department of Pediatric Pulmonology, Clinic for Pediatric and Adolescent Medicine, University Lübeck, Lübeck, Germany
4Department of Radiology, St. Josefskrankenhaus Heidelberg, Freiburg, Germany

Received 9 September 2011; Accepted 4 October 2011

Academic Editor: F.-S. Lo

Copyright © 2011 Sarah Catharina Grünert et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. C. E. Hanna, P. L. Krainz, and M. R. Skeels, “Detection of congenital hypopituitary hypothyroidism: ten-year experience in the Northwest Regional Screening Program,” Journal of Pediatrics, vol. 109, no. 6, pp. 959–964, 1986. View at Google Scholar
  2. R. W. Pfaffle, G. E. DiMattia, J. S. Parks et al., “Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia,” Science, vol. 257, no. 5073, pp. 1118–1121, 1992. View at Google Scholar · View at Scopus
  3. M. K. Hunter, S. H. Mandel, D. E. Sesser et al., “Follow-up of newborns with low thyroxine and nonelevated thyroid- stimulating hormone-screening concentrations: results of the 20-year experience in the northwest regional newborn screening program,” Journal of Pediatrics, vol. 132, no. 1, pp. 70–74, 1998. View at Publisher · View at Google Scholar · View at Scopus
  4. M. Bonomi, M. Busnelli, P. Beck-Peccoz et al., “A family with complete resistance to thyrotropin-releasing hormone,” The New England Journal of Medicine, vol. 360, no. 7, pp. 731–734, 2009. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  5. C. J. Partsch, F. G. Riepe, N. Krone, W. G. Sippell, and J. Pohlenz, “Initially elevated TSH and congenital central hypothyroidism due to a homozygous mutation of the TSH beta subunit gene: case report and review of the literature,” Experimental and Clinical Endocrinology and Diabetes, vol. 114, no. 5, pp. 227–234, 2006. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  6. M. S. Baquedano, M. Ciaccio, N. Dujovne et al., “Two novel mutations of the TSH-β subunit gene underlying congenital central hypothyroidism undetectable in neonatal TSH screening,” Journal of Clinical Endocrinology and Metabolism, vol. 95, no. 9, pp. E98–E103, 2010. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  7. C. Dacou-Voutetakis, D. M. Feltquate, M. Drakopoulou, I. A. Kourides, and N. C. Dracopoli, “Familial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone β-subunit gene,” American Journal of Human Genetics, vol. 46, no. 5, pp. 988–993, 1990. View at Google Scholar · View at Scopus
  8. H. Brumm, A. Pfeufer, H. Biebermann, D. Schnabel, D. Deiss, and A. Grüters, “Congenital central hypothyroidism due to homozygous thyrotropin beta 313 Delta T mutation is caused by a Founder effect,” Journal of Clinical Endocrinology and Metabolism, vol. 87, pp. 4811–4816, 2002. View at Google Scholar
  9. M. Wasniewska, F. De Luca, A. Cassio et al., “In congenital hypothyroidism bone maturation at birth may be a predictive factor of psychomotor development during the first year of life irrespective of other variables related to treatment,” European Journal of Endocrinology, vol. 149, no. 1, pp. 1–6, 2003. View at Google Scholar · View at Scopus
  10. I. L. Pezzuti, P. P. De Lima, and V. M. A. Dias, “Congenital hypothyroidism: the clinical profile of affected newborns identified by the Newborn Screening Program of the State of Minas Gerais, Brazil,” Jornal de Pediatria, vol. 85, no. 1, pp. 72–79, 2009. View at Publisher · View at Google Scholar · View at Scopus
  11. M. García F, R. Calzada-León, J. Pérez R et al., “Longitudinal assessment of L-T4 therapy for congenital hypothyroidism: differences between athyreosis vs ectopia and delayed vs normal bone age,” Journal of Pediatric Endocrinology and Metabolism, vol. 13, no. 1, pp. 63–69, 2000. View at Google Scholar · View at Scopus
  12. M. Virtanen and J. Perheentupa, “Bone age at birth; method and effect of hypothyroidism,” Acta Paediatrica Scandinavica, vol. 78, no. 3, pp. 412–418, 1989. View at Google Scholar · View at Scopus