This Article Full Text Full Text (PDF) Submit a related Letter to the Editor Purchase Article View Shopping Cart Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Request Copyright Permission Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Figueiredo, M. D. L. Articles by Carvalho, D. P. Search for Related Content PubMed PubMed Citation Articles by Figueiredo, M. D. L. Articles by Carvalho, D. P.

Goiter and Hypothyroidism in Two Siblings due to Impaired Ca⁺²/NAD(P)H-Dependent H₂O₂-Generating Activity

Instituto de Biofísica Carlos Chagas Filho (M.D.L.F., L.C.C., A.C.F.F., D.V.B.C., D.P.C.), Departamento de Histologia e Embriologia (L.E.N.), and Serviços de Endocrinologia (M.V.), Cirurgia (M.d.C.D.), and Medicina Nuclear (R.C.), Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, 21949-900 Rio de Janeiro, Brazil

Address all correspondence and requests for reprints to: Dr. Denise Pires de Carvalho, Instituto de Biofísica Carlos Chagas Filho, CCS-Bloco G, Cidade Universitária, Ilha do Fundão, 21949-900 Rio de Janeiro, Brazil. E-mail: dencarv{at}biof.ufrj.br

Abstract

We report herein the study of two siblings (DESM and DSM) with hypothyroidism, goiter, and positive perchlorate discharge tests (50% and 70%) in a family (M) with no history of consanguinity. Thyroid gland histology showed a predominance of hyperactive follicles, with high epithelial cells and variable colloid content. Thyroid peroxidase iodide oxidation (DESM, 1034; DSM, 1064 U/g protein) and albumin iodination (DESM, 16; DSM, 8 nmol I/mg protein) activities were within the normal range. Tg content was normal in both glands compared with that in diffuse toxic goiter (DESM, 28; DSM, 17; diffuse toxic goiter, 19 mg/g tissue), and Tg could be normally iodinated by thyroid peroxidase in vitro (DESM, 3.4; DSM, 4.3; diffuse toxic goiter, 6.3 nmol I/mg Tg). Thyroid cytochrome c reductase activities in these goiters were higher than that in paranodular tissues (DESM, 473; DSM, 567; paranodular tissues, 78 nmol NADP⁺/h/mg protein). However, thyroid NADPH oxidase activities were very low both in the particulate 3,000 x g (DESM, 4.8; DSM, 44; paranodular tissues, 224 nmol H₂O₂/h/mg protein) and in the particulate 100,000 x g fractions (DESM, 40; DSM, 47; paranodular tissues, 200 nmol H₂O₂/h/mg protein). Thus, a decreased Ca²⁺/NAD(P)H-dependent H₂O₂ generation is the probable cause of the organification defect in these goiters.

This article has been cited by other articles:

				M. G. P Ginabreda, L. C Cardoso, F. M Nobrega, A. C F Ferreira, M. D. C Goncalves, M. Vaisman, and D. P Carvalho Negative correlation between thyroperoxidase and dual oxidase H2O2-generating activities in thyroid nodular lesions Eur. J. Endocrinol., February 1, 2008; 158(2): 223 - 227. [Abstract] [Full Text] [PDF]

				J. C. Moreno, H. Bikker, M. J.E. Kempers, A.S. P. van Trotsenburg, F. Baas, J. J.M. de Vijlder, T. Vulsma, and C. Ris-Stalpers Inactivating Mutations in the Gene for Thyroid Oxidase 2 (THOX2) and Congenital Hypothyroidism N. Engl. J. Med., July 11, 2002; 347(2): 95 - 102. [Abstract] [Full Text] [PDF]

				P. Kopp Perspective: Genetic Defects in the Etiology of Congenital Hypothyroidism Endocrinology, June 1, 2002; 143(6): 2019 - 2024. [Abstract] [Full Text] [PDF]