Literature DB >> 7124278

Familial hyperthyroidism without evidence of autoimmunity.

J S Thomas, J Leclere, P Hartemann, J Duheille, J Orgiazzi, M Petersen, C Janot, J C Guedenet.   

Abstract

Thirty-four members of a single family were studied and 9 of them were found to be suffering from hyperthyroidism associated with diffuse goitre. Exophthalmos was absent and transmission seemed to be independent of HLA type. Four of the 9 were studied prior to treatment but in all cases serum immunoglobulin levels were normal, antithyroglobulin and antimicrosomal antibodies absent, thyroid stimulating antibodies negative and the lymphocyte transformation responses to mitogens not different from those of controls. The results of testing the euthyroid family members were similarly negative, except in the case of a woman with type I diabetes mellitus who showed a low titre of antimicrosomal antibody. Seven of the patients underwent subtotal thyroidectomy. Lymphocytic infiltration of the excised portion was rarely present. Four of the glands were subjected to immunofluorescent and electron microscopy but neither immunosecreting cells nor immune complex deposits were found. These results point to the existence of a non-autoimmune form of goitrous hyperthyroidism, different from Graves' disease.

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Year:  1982        PMID: 7124278     DOI: 10.1530/acta.0.1000512

Source DB:  PubMed          Journal:  Acta Endocrinol (Copenh)        ISSN: 0001-5598


  15 in total

1.  Sporadic congenital nonautoimmune hyperthyroidism caused by P639S mutation in thyrotropin receptor gene.

Authors:  Patrizia Agretti; Giuseppina De Marco; Martina Biagioni; Antonio Iannilli; Marco Marigliano; Aldo Pinchera; Paolo Vitti; Valentino Cherubini; Massimo Tonacchera
Journal:  Eur J Pediatr       Date:  2012-02-28       Impact factor: 3.183

2.  2012 European thyroid association guidelines for the management of familial and persistent sporadic non-autoimmune hyperthyroidism caused by thyroid-stimulating hormone receptor germline mutations.

Authors:  R Paschke; M Niedziela; B Vaidya; L Persani; B Rapoport; J Leclere
Journal:  Eur Thyroid J       Date:  2012-10-04

3.  Identification and functional characterization of a novel thyrotropin receptor mutation (V87L) in a Chinese woman with subclinical hypothyroidism.

Authors:  Hong-Mei Zhang; Ya-Qin Zhou; Yan Dong; Qing Su
Journal:  Exp Ther Med       Date:  2016-12-06       Impact factor: 2.447

4.  Similarities and differences in the phenotype of members of an Italian family with hereditary non-autoimmune hyperthyroidism associated with an activating TSH receptor germline mutation.

Authors:  F Arturi; E Chiefari; S Tumino; D Russo; S Squatrito; G Chazenbalk; L Persani; B Rapoport; S Filetti
Journal:  J Endocrinol Invest       Date:  2002-09       Impact factor: 4.256

5.  A family with a novel TSH receptor activating germline mutation (p.Ala485Val).

Authors:  Sema Akcurin; Doga Turkkahraman; Carolyn Tysoe; Sian Ellard; Anne De Leener; Gilbert Vassart; Sabine Costagliola
Journal:  Eur J Pediatr       Date:  2008-01-04       Impact factor: 3.183

6.  Congenital neonatal hyperthyroidism caused by germline mutations in the TSH receptor gene.

Authors:  Jeremy Chester; Deborah Rotenstein; Usanee Ringkananont; Guy Steuer; Beatrice Carlin; Lindsay Stewart; Helmut Grasberger; Samuel Refetoff
Journal:  J Pediatr Endocrinol Metab       Date:  2008-05       Impact factor: 1.634

7.  A somatic gain-of-function mutation in the thyrotropin receptor gene producing a toxic adenoma in an infant.

Authors:  Brenda Kohn; Helmut Grasberger; Leslie L Lam; Alfonso Massimiliano Ferrara; Samuel Refetoff
Journal:  Thyroid       Date:  2009-02       Impact factor: 6.568

8.  A CASE OF FAMILIAL NONAUTOIMMUNE HYPERTHYROIDISM DURING PREGNANCY.

Authors:  Yuka Okazaki; Naoko Arata; Nagayoshi Umehara; Taisuke Yamauchi; Junnichi Tajiri; Akira Hishinuma; Takahiko Kogai; Takashi Idegami; Atsuko Murashima; Haruhiko Sago
Journal:  AACE Clin Case Rep       Date:  2020-01-22

9.  Rare thyroid non-neoplastic diseases.

Authors:  Katarzyna Lacka; Adam Maciejewski
Journal:  Thyroid Res       Date:  2015-04-11

Review 10.  Fetal and neonatal thyrotoxicosis.

Authors:  Chandar Mohan Batra
Journal:  Indian J Endocrinol Metab       Date:  2013-10
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