Literature DB >> 3799599

An autosomal dominant form of adolescent multinodular goiter.

R M Couch, I A Hughes, D J DeSa, A Schiffrin, H Guyda, J S Winter.   

Abstract

Eighteen members of an extended pedigree have been found to have a form of euthyroid adolescent multinodular goiter. Histological examination showed multiple adenomata with areas of epithelial hyperplasia, hemorrhage, and calcification. In two subjects there were focal areas of epithelial hyperplasia reminiscent of low-grade papillary carcinoma, but capsular and vascular invasion was not found. The pattern of inheritance appeared to be autosomal dominant, with diminished penetrance in males. Although the patients were euthyroid, the likely basis for this disorder is an abnormality in thyroglobulin structure and function.

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Year:  1986        PMID: 3799599      PMCID: PMC1684131     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


  14 in total

1.  Unusual familial goiter associated with intrathyroidal calcification.

Authors:  I P Murray; J A Thomson; E M McGirr; E M Macdonald; J S Kennedy; I McLennan
Journal:  J Clin Endocrinol Metab       Date:  1966-10       Impact factor: 5.958

2.  Thyroid disease in children. A survey of subjects potentially exposed to fallout radiation.

Authors:  M L Rallison; B M Dobyns; F R Keating; J E Rall; F H Tyler
Journal:  Am J Med       Date:  1974-04       Impact factor: 4.965

3.  Serum thyrotropin concentrations under basal conditions and after stimulation with thyrotropin-releasing hormone in idiopathic non-toxic goiter.

Authors:  H Dige-Petersen; L Hummer
Journal:  J Clin Endocrinol Metab       Date:  1977-06       Impact factor: 5.958

4.  Serum thyroglobulin (Tg) stimulation with bovine TSH: a useful test for diagnosis of congenital goitrous hypothyroidism due to defective Tg synthesis.

Authors:  G A Medeiros-Neto; J A Marcondes; H Cavaliere; B L Wajchenberg; M Knobel
Journal:  Acta Endocrinol (Copenh)       Date:  1985-09

5.  The diagnosis of malignancy in dyshormonogenetic goitre.

Authors:  A L Vickery
Journal:  Clin Endocrinol Metab       Date:  1981-07

6.  A goitrous subject with structural abnormality of thyroglobulin.

Authors:  T Kusakabe
Journal:  J Clin Endocrinol Metab       Date:  1972-12       Impact factor: 5.958

7.  Defective thyroglobulin export as a cause of congenital goitre.

Authors:  S Lissitzky; J Torresani; G N Burrow; S Bouchilloux; O Chabaud
Journal:  Clin Endocrinol (Oxf)       Date:  1975-07       Impact factor: 3.478

8.  Low molecular weight thyroglobulin leading to a goiter in a 12-year-old girl.

Authors:  J E Silva; R Santelices; M Kishihara; A Schneider
Journal:  J Clin Endocrinol Metab       Date:  1984-03       Impact factor: 5.958

9.  Abnormal cellular localization of thyroglobulin mRNA associated with hereditary congenital goiter and thyroglobulin deficiency.

Authors:  W F Van Voorthuizen; C Dinsart; R A Flavell; J J DeVijlder; G Vassart
Journal:  Proc Natl Acad Sci U S A       Date:  1978-01       Impact factor: 11.205

Review 10.  Inherited disorders of thyroid metabolism.

Authors:  E G Lever; G A Medeiros-Neto; L J DeGroot
Journal:  Endocr Rev       Date:  1983       Impact factor: 19.871

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  5 in total

1.  Familial nontoxic multinodular thyroid goiter locus maps to chromosome 14q but does not account for familial nonmedullary thyroid cancer.

Authors:  G R Bignell; F Canzian; M Shayeghi; M Stark; Y Y Shugart; P Biggs; J Mangion; R Hamoudi; J Rosenblatt; P Buu; S Sun; S S Stoffer; D E Goldgar; G Romeo; R S Houlston; S A Narod; M R Stratton; W D Foulkes
Journal:  Am J Hum Genet       Date:  1997-11       Impact factor: 11.025

2.  DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors.

Authors:  Thomas Rio Frio; Amin Bahubeshi; Chryssa Kanellopoulou; Nancy Hamel; Marek Niedziela; Nelly Sabbaghian; Carly Pouchet; Lucy Gilbert; Paul K O'Brien; Kim Serfas; Peter Broderick; Richard S Houlston; Fabienne Lesueur; Elena Bonora; Stefan Muljo; R Neil Schimke; Dorothée Bouron-Dal Soglio; Jocelyne Arseneau; Kris Ann Schultz; John R Priest; Van-Hung Nguyen; H Rubén Harach; David M Livingston; William D Foulkes; Marc Tischkowitz
Journal:  JAMA       Date:  2011-01-05       Impact factor: 56.272

Review 3.  Familial nonmedullary thyroid neoplasia.

Authors:  H Rubén Harach
Journal:  Endocr Pathol       Date:  2001       Impact factor: 3.943

4.  A gene predisposing to familial thyroid tumors with cell oxyphilia maps to chromosome 19p13.2.

Authors:  F Canzian; P Amati; H R Harach; J L Kraimps; F Lesueur; J Barbier; P Levillain; G Romeo; D Bonneau
Journal:  Am J Hum Genet       Date:  1998-12       Impact factor: 11.025

5.  Analyzing the Role of DICER1 Germline Variations in Papillary Thyroid Carcinoma.

Authors:  Sule Canberk; Joana C Ferreira; Luísa Pereira; Rui Batısta; Andre F Vieira; Paula Soares; Manuel Sobrinho Simões; Valdemar Máximo
Journal:  Eur Thyroid J       Date:  2020-08-06
  5 in total

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