{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T02:09:05Z","timestamp":1790647745551,"version":"4.1.0"},"reference-count":22,"publisher":"Walter de Gruyter GmbH","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,6,24]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_jpem-2026-0119_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      Transient congenital hypothyroidism (TCH) is characterized by congenital hypothyroidism (CH) which spontaneously resolves in the first years of life. While most cases are sporadic, several studies from worldwide showed variants in\n                      <jats:italic>DUOX2<\/jats:italic>\n                      ,\n                      <jats:italic>DUOXA2, TSHR<\/jats:italic>\n                      genes in the etiology of TCH. The aim of our study is to evaluate the genetic etiology of\u00a0TCH.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2026-0119_abs_002\">\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A total of 54 patients from 50 families with TCH were included the study. The age at diagnosis, age at time of drug discontinuation, gender, consanguinity, the presence of additional examination findings, venous fT4 and TSH levels at the time of diagnosis, at time of drug discontinuation and at the last visit, the follow-up data and genetic characteristics were obtained from records.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2026-0119_abs_003\">\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A total of 54 patients from 50 families [59.3\u202f% male (n=32) and 40.7\u202f% female (n=22)] with TCH were included in the study. Pathogenic variants were detected in 15 out of 54 patients. 10 different\n                      <jats:italic>DUOX2<\/jats:italic>\n                      variants (c.1060C&gt;T, c.1547G&gt;A, c.2597T&gt;G, c.3314T&gt;C, c.3382C&gt;A, c.3509A&gt;C, c.3790A&gt;G, c.4445C&gt;T, c.28del, c.533G&gt;T) were identified in 11 patients (2 homozygous, 3 compound heterozygous, and 6 heterozygous).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2026-0119_abs_004\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Our findings suggest that\n                      <jats:italic>DUOX2<\/jats:italic>\n                      variants are the main genetic cause of TCH. We reported novel variants in the\n                      <jats:italic>DUOX2<\/jats:italic>\n                      and\n                      <jats:italic>TSHR<\/jats:italic>\n                      genes that expand their mutational spectrum. These findings support the need for incorporating molecular analysis into the diagnostic evaluation of TCH, not only to improve our knowledge of its genetic underly, but also to provide valuable insights for long-term follow-up, family counseling, and personalized management strategies.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/jpem-2026-0119","type":"journal-article","created":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T11:10:33Z","timestamp":1778497833000},"page":"573-581","source":"Crossref","is-referenced-by-count":1,"title":["Genetic evaluation of a group of patients with transient congenital hypothyroidism by targeted exome sequencing"],"prefix":"10.1515","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0598-3494","authenticated-orcid":false,"given":"\u00d6zge","family":"K\u00f6pr\u00fcl\u00fc","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology , Dr. Beh\u00e7et Uz Children\u2019s Education and Research Hospital , Izmir , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0768-835X","authenticated-orcid":false,"given":"Sezer","family":"Acar","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , Tepecik Education and Research Hospital , Izmir , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0853-3253","authenticated-orcid":false,"given":"Ceren Y\u0131lmaz","family":"Uzman","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics , Dr. Beh\u00e7et Uz Children\u2019s Education and Research Hospital , Izmir , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9368-8868","authenticated-orcid":false,"given":"\u0130brahim Mert","family":"Erba\u015f","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , Dr. Beh\u00e7et Uz Children\u2019s Education and Research Hospital , Izmir , T\u00fcrkiye"},{"name":"Department of Pediatrics , \u0130zmir Faculty of Medicine, University of Health Sciences , Izmir , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0410-5761","authenticated-orcid":false,"given":"\u00d6zlem","family":"Nalbanto\u011flu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , Dr. Beh\u00e7et Uz Children\u2019s Education and Research Hospital , Izmir , T\u00fcrkiye"},{"name":"Department of Pediatrics , \u0130zmir Faculty of Medicine, University of Health Sciences , Izmir , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0382-3446","authenticated-orcid":false,"given":"Filiz","family":"Hazan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics , Dr. Beh\u00e7et Uz Children\u2019s Education and Research Hospital , Izmir , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6795-3012","authenticated-orcid":false,"given":"Semra","family":"G\u00fcrsoy","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics , Dokuz Eyl\u00fcl University Faculty of Medicine , Izmir , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5800-9014","authenticated-orcid":false,"given":"H\u00fcseyin An\u0131l","family":"Korkmaz","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , Dr. Beh\u00e7et Uz Children\u2019s Education and Research Hospital , Izmir , T\u00fcrkiye"},{"name":"Department of Pediatrics , \u0130zmir Faculty of Medicine, University of Health Sciences , Izmir , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9153-8409","authenticated-orcid":false,"given":"Behzat","family":"\u00d6zkan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , Dr. Beh\u00e7et Uz Children\u2019s Education and Research Hospital , Izmir , T\u00fcrkiye"},{"name":"Department of Pediatrics , \u0130zmir Faculty of Medicine, University of Health Sciences , Izmir , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2026,5,12]]},"reference":[{"key":"2026070215583354305_j_jpem-2026-0119_ref_001","doi-asserted-by":"crossref","unstructured":"van Trotsenburg, P, Stoupa, A, L\u00e9ger, J, Rohrer, T, Peters, C, Fugazzola, L, et al.. 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