{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,4]],"date-time":"2023-10-04T10:31:18Z","timestamp":1696415478257},"reference-count":23,"publisher":"FapUNIFESP (SciELO)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq Bras Endocrinol Metab"],"published-print":{"date-parts":[[2012,4]]},"abstract":"<jats:p>OBJECTIVE: To characterize the phenotype of patients with congenital hypothyroidism (CH) due to dyshormonogenesis, and to hypothesize on the degree of genetic defect. SUBJECTS AND METHODS: Patients with dyshormonogenesis were subdivided into G1 (radioactive iodine uptake, RAIU &gt; 15%; n = 62) and G2 (RAIU &lt; 15%; n = 32). Thyroglobulin (TG) was measured in all patients; perchlorate discharge test (PDT) was performed in G1; and saliva-to-plasma radioiodine ratio (I- S\/P) in G2. RESULTS: Levels of TSH, TT4, and FT4 before treatment and upon diagnosis confirmation were significantly different in both groups, but not between groups. In G1, 27 patients developed goiter; 17 had positive PDT (14%-71% discharge), 11 had TG &lt; 2.5 ng\/dL (one with high TSH), and one developed thyroid carcinoma. In G2, four patients developed goiter, and three had low I- S\/P. CONCLUSION: These data suggest an iodide organification defect in 17 cases; an iodide transport defect (NIS defect) in three, probable TSH resistance in 10, and a TG synthesis defect in two cases.<\/jats:p>","DOI":"10.1590\/s0004-27302012000300009","type":"journal-article","created":{"date-parts":[[2012,6,4]],"date-time":"2012-06-04T13:19:46Z","timestamp":1338815986000},"page":"201-208","source":"Crossref","is-referenced-by-count":5,"title":["Clinical and laboratory features of children and adolescents with congenital hypothyroidism due to dyshormonogenesis in southern Brazil"],"prefix":"10.1590","volume":"56","author":[{"given":"Juliana Cristina Romero Rojas","family":"Ramos","sequence":"first","affiliation":[{"name":"Universidade Federal do Paran\u00e1 (HC-UFPR)"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luiz de","family":"Lacerda Filho","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1 (HC-UFPR)"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adriane de Andr\u00e9 Cardoso","family":"DeMartini","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1 (HC-UFPR)"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rodrigo Bruel da","family":"Silveira","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1 (HC-UFPR)"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosana Marques","family":"Pereira","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1 (HC-UFPR)"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Romolo","family":"Sandrini Neto","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1 (HC-UFPR)"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suzana Nesi","family":"Fran\u00e7a","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1 (HC-UFPR)"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"530","reference":[{"issue":"42","key":"ref1","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1136\/jmg.2004.024158","article-title":"Genetics of congenital hypothyroidism","volume":"5","author":"Park SM","year":"2005","journal-title":"J Med Genet","ISSN":"http:\/\/id.crossref.org\/issn\/0022-2593","issn-type":"print"},{"key":"ref2","series-title":"Pediatric Endocrinology","first-page":"198","volume-title":"Disorders of the thyroid in the newborn and infant","author":"Fisher DA","year":"2008","edition":"3"},{"issue":"9","key":"ref3","first-page":"735","article-title":"Congenital hypothyroidism: etiologies, diagnosis, and management","volume":"7","author":"LaFranchi S.","year":"2009","journal-title":"Thyroid","ISSN":"http:\/\/id.crossref.org\/issn\/1050-7256","issn-type":"print"},{"issue":"71","key":"ref4","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1111\/j.1365-2265.2009.03568.x","article-title":"A 7-year experience with low blood TSH cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism (CH)","volume":"5","author":"Corbetta C","year":"2009","journal-title":"Clin Endocrinol"},{"issue":"85","key":"ref5","doi-asserted-by":"crossref","first-page":"3708","DOI":"10.1210\/jcem.85.10.6878","article-title":"Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update)","volume":"10","author":"Bakker B","year":"2000","journal-title":"J Clin Endocrinol Metab","ISSN":"http:\/\/id.crossref.org\/issn\/0021-972X","issn-type":"print"},{"issue":"1999","key":"ref6","first-page":"469","article-title":"Mutations in the sodium\/iodide symporter (NIS) gene as a cause for iodide transport defects and congenital hypothyroidism","volume":"81","author":"Pohlenz J","journal-title":"Biochimie","ISSN":"http:\/\/id.crossref.org\/issn\/0300-9084","issn-type":"print"},{"issue":"91","key":"ref7","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1016\/j.ymgme.2007.03.012","article-title":"Increase in congenital hypothyroidism in New York State and in the United States","volume":"3","author":"Harris KB","year":"2007","journal-title":"Mol Genet Metab","ISSN":"http:\/\/id.crossref.org\/issn\/1096-7192","issn-type":"print"},{"key":"ref8","year":"2011"},{"key":"ref9","series-title":"Hipotireoidismo cong\u00eanito no Brasil: desafios \u00e0 busca de solu\u00e7\u00f5es","first-page":"107","volume-title":"Exposi\u00e7\u00e3o de centros de refer\u00eancias regionais - Regi\u00e3o Sul","author":"Vargas PR.","year":"2008"},{"key":"ref10","series-title":"Inherited Disorders of the Thyroid System","first-page":"37","volume-title":"The iodide transport defect","author":"Medeiros-Neto G","year":"1994"},{"issue":"84","key":"ref11","first-page":"1438","article-title":"Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter","volume":"4","author":"Hishinuma A","year":"1999","journal-title":"J Clin Endocrinol Metab","ISSN":"http:\/\/id.crossref.org\/issn\/0021-972X","issn-type":"print"},{"issue":"18","key":"ref12","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1089\/thy.2007.0321","article-title":"Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations","volume":"7","author":"Pardo V","year":"2008","journal-title":"Thyroid","ISSN":"http:\/\/id.crossref.org\/issn\/1050-7256","issn-type":"print"},{"issue":"67","key":"ref13","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1111\/j.1365-2265.2007.02889.x","article-title":"Congenital hypothyroidism with goiter caused by new mutations in the thyroglobulin gene","author":"Caputo M","year":"2007","journal-title":"Clinical Endocrinol"},{"issue":"70","key":"ref14","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1159\/000151597","article-title":"Clinical description of infants with congenital hypothyroidism and iodide organification defects","author":"Cavarzere P","year":"2008","journal-title":"Horm Res","ISSN":"http:\/\/id.crossref.org\/issn\/0301-0163","issn-type":"print"},{"issue":"28","key":"ref15","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1007\/BF03347239","article-title":"Congenital hypothyroidism with gland in situ diagnostic re-evaluation","author":"Weber G","year":"2005","journal-title":"J Endocrinol Invest","ISSN":"http:\/\/id.crossref.org\/issn\/0391-4097","issn-type":"print"},{"issue":"156","key":"ref16","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1530\/EJE-07-0037","article-title":"High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis","author":"Avbelj M","year":"2007","journal-title":"Eur J Endocrinol","ISSN":"http:\/\/id.crossref.org\/issn\/0804-4643","issn-type":"print"},{"issue":"94","key":"ref17","doi-asserted-by":"crossref","first-page":"4309","DOI":"10.1210\/jc.2009-0426","article-title":"Identification and functional studies of two new dual-oxidases 2 (DUOX2) mutations in a child with congenital hypothyroidism and eutopic normal-size thyroid gland","volume":"11","author":"Tonacchera M","year":"2009","journal-title":"J Clin Endocrinol Metab","ISSN":"http:\/\/id.crossref.org\/issn\/0021-972X","issn-type":"print"},{"issue":"93","key":"ref18","first-page":"99","article-title":"Enlarged vestibular aqueduct: a radiological marker of Pendred syndrome, and mutation of the PDS gene","volume":"2","author":"Reardon W","journal-title":"Q J Med. 2000"},{"issue":"358","key":"ref19","doi-asserted-by":"crossref","first-page":"1811","DOI":"10.1056\/NEJMoa0706819","article-title":"Mutations in the iodotyrosine deiodinase gene and hypothyroidism","author":"Moreno JC","year":"2008","journal-title":"N Engl J Med","ISSN":"http:\/\/id.crossref.org\/issn\/0028-4793","issn-type":"print"},{"issue":"53","key":"ref20","first-page":"55","article-title":"Urinary iodine in patients with auto-immune thyroid disorders in Santo Andr\u00e9, SP, is comparable to normal controls and has been steady for the last 10 years","volume":"1","author":"Marino MAZ","year":"2009","journal-title":"Arq Bras Endocrinol Metab"},{"key":"ref21","series-title":"Inherited Disorders of the Thyroid System","first-page":"207","volume-title":"Thyroid malignancy and dyshomonogenetic goiter","author":"Medeiros-Neto G","year":"1994"},{"issue":"91","key":"ref22","doi-asserted-by":"crossref","first-page":"740","DOI":"10.1210\/jc.2005-2302","article-title":"Metastatic follicular thyroid carcinoma arising from congenital goiter as a result of a novel splice donor site mutation in the thyroglobulin gene","volume":"3","author":"Alzahrani AS","year":"2006","journal-title":"J Clin Endocrinol Metab","ISSN":"http:\/\/id.crossref.org\/issn\/0021-972X","issn-type":"print"},{"issue":"95","key":"ref23","doi-asserted-by":"crossref","first-page":"1000","DOI":"10.1210\/jc.2009-1823","article-title":"Biallelic p.R2223H mutation in the thyroglobulin gene causes thyroglobulin retention and severe hypothyroidism with subsequent development of thyroid carcinoma","volume":"3","author":"Raef H","year":"2010","journal-title":"J Clin Endocrinol Metab","ISSN":"http:\/\/id.crossref.org\/issn\/0021-972X","issn-type":"print"}],"container-title":["Arquivos Brasileiros de Endocrinologia &amp; Metabologia"],"original-title":[],"link":[{"URL":"http:\/\/www.scielo.br\/pdf\/abem\/v56n3\/a09v56n3.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,5,27]],"date-time":"2017-05-27T06:13:33Z","timestamp":1495865613000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.scielo.br\/scielo.php?script=sci_arttext&pid=S0004-27302012000300009&lng=en&tlng=en"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,4]]},"references-count":23,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2012,4]]}},"alternative-id":["S0004-27302012000300009"],"URL":"https:\/\/doi.org\/10.1590\/s0004-27302012000300009","relation":{},"ISSN":["0004-2730"],"issn-type":[{"value":"0004-2730","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,4]]}}}