Persistent goiter with congenital hypothyroidism due to mutation in DUOXA2 gene
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Jung, So Yoon | - |
dc.contributor.author | Lee, Jeongho | - |
dc.contributor.author | Lee, Dong Hwan | - |
dc.date.accessioned | 2021-08-11T08:37:22Z | - |
dc.date.available | 2021-08-11T08:37:22Z | - |
dc.date.issued | 2020-03 | - |
dc.identifier.issn | 2287-1012 | - |
dc.identifier.issn | 2287-1292 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/sch/handle/2021.sw.sch/3039 | - |
dc.description.abstract | Thyroid hormones are crucial for development of the central nervous system. Congenital hypothyroidism (CH) is the most common preventable disease resulting in mental retardation. A neonatal screening test (NST) can detect a mild form of CH that can be treated at an early age. Generally after 3 years of age, when most of the brain has matured, clinicians consider reevaluation of thyroid function for CH patients that have been identified with a normal thyroid gland at a normal position. This report presents three CH patients that developed normally, with persistent goiter despite thyroid hormone supplements. The patients' initial thyroid-stimulating hormone (TSH) level after NST was 47, 157, and 57 mIU/L, respectively. Levothyroxine administration began at 1 or 2 months of age and was terminated after reevaluation at the age of 3, 15, and 5 years, respectively. However, 1 or 2 years later, they all resumed their medication due to increased TSH level coupled with newly developed or enlarged goiter. They all showed dual oxidase maturation factor 2 (DUOXA2) gene mutation: a homozygous mutation with DUOXA2 (c.413dupA; p.Tyr138*) in case 1, a presumed compound heterozygotic mutation with DUOXA2 (p.Tyr138*/p.Tyr246*) in case 2, and heterozygous mutations with DUOXA2 (c.738C>G; p.Tyr246*) and TPO (c.2268dupT; p.Glu757*) in case 3. When goiter persists or is newly developed despite a maintained euthyroid status, for those with transient CH history, follow-up to assess the thyroid function is recommended for at least 1 or 2 years, and genetic testing would be helpful. This study presents the first clinical cases of DUOXA2 mutation in Korea. | - |
dc.format.extent | 6 | - |
dc.language | 영어 | - |
dc.language.iso | ENG | - |
dc.publisher | 대한소아내분비학회 | - |
dc.title | Persistent goiter with congenital hypothyroidism due to mutation in DUOXA2 gene | - |
dc.type | Article | - |
dc.publisher.location | 대한민국 | - |
dc.identifier.doi | 10.6065/apem.2020.25.1.57 | - |
dc.identifier.wosid | 000522789200010 | - |
dc.identifier.bibliographicCitation | Annals of Pediatirc Endocrinology & Metabolism, v.25, no.1, pp 57 - 62 | - |
dc.citation.title | Annals of Pediatirc Endocrinology & Metabolism | - |
dc.citation.volume | 25 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 57 | - |
dc.citation.endPage | 62 | - |
dc.type.docType | Article | - |
dc.identifier.kciid | ART002572021 | - |
dc.description.isOpenAccess | Y | - |
dc.description.journalRegisteredClass | scopus | - |
dc.description.journalRegisteredClass | esci | - |
dc.description.journalRegisteredClass | kci | - |
dc.relation.journalResearchArea | Endocrinology & Metabolism | - |
dc.relation.journalResearchArea | Pediatrics | - |
dc.relation.journalWebOfScienceCategory | Endocrinology & Metabolism | - |
dc.relation.journalWebOfScienceCategory | Pediatrics | - |
dc.subject.keywordPlus | TRANSIENT | - |
dc.subject.keywordAuthor | Congenital hypothyroidism | - |
dc.subject.keywordAuthor | Goiter | - |
dc.subject.keywordAuthor | Genes | - |
Items in ScholarWorks are protected by copyright, with all rights reserved, unless otherwise indicated.
(31538) 22, Soonchunhyang-ro, Asan-si, Chungcheongnam-do, Republic of Korea+82-41-530-1114
COPYRIGHT 2021 by SOONCHUNHYANG UNIVERSITY ALL RIGHTS RESERVED.
Certain data included herein are derived from the © Web of Science of Clarivate Analytics. All rights reserved.
You may not copy or re-distribute this material in whole or in part without the prior written consent of Clarivate Analytics.