{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T11:11:00Z","timestamp":1768907460430,"version":"3.49.0"},"reference-count":44,"publisher":"Walter de Gruyter GmbH","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,11,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2019-0047_s_999_w2aab3b7b2b1b6b1aab1c17b1Aa\">\n                  <jats:title id=\"d1057614e2845_w2aab3b7b2b1b6b1aab1c17b1aAa\">Background<\/jats:title>\n                  <jats:p>Permanent primary congenital hypothyroidism (CH) can be caused by thyroid dysgenesis or dyshormonogenesis. A molecular genetic study is recommended in dyshormonogenesis, in syndromic hypothyroidism and when there is a family history of CH. The aim of this study was to identify a monogenic etiology for CH in selected individuals from a cohort of primary permanent CH.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2019-0047_s_998_w2aab3b7b2b1b6b1aab1c17b2Aa\">\n                  <jats:title id=\"d1057614e2853_w2aab3b7b2b1b6b1aab1c17b2aAa\">Methods<\/jats:title>\n                  <jats:p>From an initial cohort of 79 patients with permanent CH (3\u201319 years), 11 patients were selected for molecular analyses. Nine patients with dyshormonogenesis (normal <jats:italic>in-situ<\/jats:italic> gland or goiter) were screened for causative variants, by next-generation sequencing (NGS), in 28 genes known to be responsible for CH. One patient with a family history of CH was screened for the paired-box gene 8 (<jats:italic>PAX8<\/jats:italic>) gene and another patient with a syndromic CH was screened for the <jats:italic>NKX2-1<\/jats:italic> gene.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2019-0047_s_997_w2aab3b7b2b1b6b1aab1c17b3Aa\">\n                  <jats:title id=\"d1057614e2870_w2aab3b7b2b1b6b1aab1c17b3aAa\">Results<\/jats:title>\n                  <jats:p>We found a monogenic basis of disease in eight patients, involving the thyroid peroxidase (<jats:italic>TPO<\/jats:italic>) gene (four patients), the thyroglobulin (<jats:italic>TG<\/jats:italic>) gene (two patients), and the <jats:italic>PAX8<\/jats:italic> and <jats:italic>NKX2-1<\/jats:italic> genes (one patient each). Two patients were heterozygotes, one harboring a variant in the <jats:italic>TG<\/jats:italic> gene and the other in the <jats:italic>SLC5A5<\/jats:italic> gene. In one patient, we found no potential causative variants in any of the 28 genes screened. We described five novel variants: three in the <jats:italic>TG<\/jats:italic> gene, one in the <jats:italic>NKX2-1<\/jats:italic> and one in the <jats:italic>SLC5A5<\/jats:italic> gene, all of them classified as pathogenic.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2019-0047_s_996_w2aab3b7b2b1b6b1aab1c17b4Aa\">\n                  <jats:title id=\"d1057614e2906_w2aab3b7b2b1b6b1aab1c17b4aAa\">Conclusions<\/jats:title>\n                  <jats:p>In eight of the 11 screened patients, a monogenic disease was found. These results highlight the advantage of using an NGS panel and provide further data regarding the molecular basis of CH.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2019-0047","type":"journal-article","created":{"date-parts":[[2019,11,12]],"date-time":"2019-11-12T09:03:47Z","timestamp":1573549427000},"page":"1265-1273","source":"Crossref","is-referenced-by-count":25,"title":["Genetic analyses in a cohort of Portuguese pediatric patients with congenital hypothyroidism"],"prefix":"10.1515","volume":"32","author":[{"given":"Rita","family":"Santos-Silva","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Pediatric Endocrinology Unit , Centro Hospitalar S. Jo\u00e3o, Alameda Prof. Hern\u00e2ni Monteiro , 4200-319 Porto , Portugal"}]},{"given":"Marta","family":"Ros\u00e1rio","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Centro Hospitalar S. Jo\u00e3o , Porto , Portugal"}]},{"given":"Ana","family":"Grangeia","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics , Centro Hospitalar de S. Jo\u00e3o , Porto , Portugal"}]},{"given":"Carla","family":"Costa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Endocrinology Unit , Centro Hospitalar S. Jo\u00e3o, Alameda Prof. Hern\u00e2ni Monteiro , Porto , Portugal"}]},{"given":"C\u00edntia","family":"Castro-Correia","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Endocrinology Unit , Centro Hospitalar S. Jo\u00e3o, Alameda Prof. Hern\u00e2ni Monteiro , Porto , Portugal"}]},{"given":"Isabel","family":"Alonso","sequence":"additional","affiliation":[{"name":"UnIGENe and CGPP\/Units at i3S, Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade , Universidade do Porto , Porto , Portugal"}]},{"given":"Miguel","family":"Le\u00e3o","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics , Centro Hospitalar de S. Jo\u00e3o , Porto , Portugal"}]},{"given":"Manuel","family":"Fontoura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Endocrinology Unit , Centro Hospitalar S. Jo\u00e3o, Alameda Prof. Hern\u00e2ni Monteiro , Porto , Portugal"}]}],"member":"374","published-online":{"date-parts":[[2019,8,20]]},"reference":[{"key":"2023040101012438711_j_jpem-2019-0047_ref_001_w2aab3b7b2b1b6b1ab1b7b1Aa","unstructured":"Vilarinho L, Diogo L, Pinho e Costa P. [National Early Diagnosis Program: 2016 Report]. 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