Clinical genetics of defects in thyroid hormone synthesis
Thyroid dyshormonogenesis is characterized by impairment in one of the several stages of thyroid hormone synthesis and accounts for 10%–15% of congenital hypothyroidism (CH). Seven genes are known to be associated with thyroid dyshormonogenesis: SLC5A5 (NIS), SCL26A4 (PDS), TG, TPO, DUOX2, DUOXA2, a...
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| Format: | Article |
| Language: | English |
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Korean Society of Pediatric Endocrinology
2018-12-01
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| Series: | Annals of Pediatric Endocrinology & Metabolism |
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| Online Access: | http://e-apem.org/upload/pdf/apem-2018-23-4-169.pdf |
| _version_ | 1817997844323237888 |
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| author | Min Jung Kwak |
| author_facet | Min Jung Kwak |
| author_sort | Min Jung Kwak |
| collection | DOAJ |
| description | Thyroid dyshormonogenesis is characterized by impairment in one of the several stages of thyroid hormone synthesis and accounts for 10%–15% of congenital hypothyroidism (CH). Seven genes are known to be associated with thyroid dyshormonogenesis: SLC5A5 (NIS), SCL26A4 (PDS), TG, TPO, DUOX2, DUOXA2, and IYD (DHEAL1). Depending on the underlying mechanism, CH can be permanent or transient. Inheritance is usually autosomal recessive, but there are also cases of autosomal dominant inheritance. In this review, we describe the molecular basis, clinical presentation, and genetic diagnosis of CH due to thyroid dyshormonogenesis, with an emphasis on the benefits of targeted exome sequencing as an updated diagnostic approach. |
| first_indexed | 2024-04-14T02:44:17Z |
| format | Article |
| id | doaj.art-22ce721846a943619485579f20ef0392 |
| institution | Directory Open Access Journal |
| issn | 2287-1012 2287-1292 |
| language | English |
| last_indexed | 2024-04-14T02:44:17Z |
| publishDate | 2018-12-01 |
| publisher | Korean Society of Pediatric Endocrinology |
| record_format | Article |
| series | Annals of Pediatric Endocrinology & Metabolism |
| spelling | doaj.art-22ce721846a943619485579f20ef03922022-12-22T02:16:37ZengKorean Society of Pediatric EndocrinologyAnnals of Pediatric Endocrinology & Metabolism2287-10122287-12922018-12-0123416917510.6065/apem.2018.23.4.169755Clinical genetics of defects in thyroid hormone synthesisMin Jung KwakThyroid dyshormonogenesis is characterized by impairment in one of the several stages of thyroid hormone synthesis and accounts for 10%–15% of congenital hypothyroidism (CH). Seven genes are known to be associated with thyroid dyshormonogenesis: SLC5A5 (NIS), SCL26A4 (PDS), TG, TPO, DUOX2, DUOXA2, and IYD (DHEAL1). Depending on the underlying mechanism, CH can be permanent or transient. Inheritance is usually autosomal recessive, but there are also cases of autosomal dominant inheritance. In this review, we describe the molecular basis, clinical presentation, and genetic diagnosis of CH due to thyroid dyshormonogenesis, with an emphasis on the benefits of targeted exome sequencing as an updated diagnostic approach.http://e-apem.org/upload/pdf/apem-2018-23-4-169.pdfCongenital hypothyroidismDyshormonogenesisGeneticsWhole exome sequencing |
| spellingShingle | Min Jung Kwak Clinical genetics of defects in thyroid hormone synthesis Annals of Pediatric Endocrinology & Metabolism Congenital hypothyroidism Dyshormonogenesis Genetics Whole exome sequencing |
| title | Clinical genetics of defects in thyroid hormone synthesis |
| title_full | Clinical genetics of defects in thyroid hormone synthesis |
| title_fullStr | Clinical genetics of defects in thyroid hormone synthesis |
| title_full_unstemmed | Clinical genetics of defects in thyroid hormone synthesis |
| title_short | Clinical genetics of defects in thyroid hormone synthesis |
| title_sort | clinical genetics of defects in thyroid hormone synthesis |
| topic | Congenital hypothyroidism Dyshormonogenesis Genetics Whole exome sequencing |
| url | http://e-apem.org/upload/pdf/apem-2018-23-4-169.pdf |
| work_keys_str_mv | AT minjungkwak clinicalgeneticsofdefectsinthyroidhormonesynthesis |