Abstract:
BACKGROUND/AIMS:Syndromes of reduced sensitivity to thyroid hormone can be caused by innate resistance to thyroid hormone (RTH), thyroid hormone cell transporter defects, or thyroid hormone metabolism defects. This study was performed to describe clinical, endocrinological, and molecular characteristics of patients with disorders associated with impaired sensitivity to thyroid hormone due to THRB or SLC16A2 mutations. METHODS:This study included 5 probands (1 male and 4 females) with RTH and 6 patients with Allan-Herndon-Dudley syndrome (AHDS). Clinical features and endocrine findings were reviewed retrospectively. Molecular analysis of two candidate genes, THRB or SLC16A2, confirmed the diagnosis. RESULTS:Among RTH patients, median age at diagnosis was 5.6 years. Three patients were classified as having generalized RTH, whereas the other 2 patients were regarded as having isolated pituitary RTH. Three novel heterozygous mutations and 2 known mutations in THRB were identified from 5 independent pedigrees. All mutations were located in the major ligand-binding domain. In AHDS patients, delayed development was apparent between 3 and 6 months of age. Direct sequencing of SLC16A2 identified 6 hemizygous missense mutations in each patient: p.I188N, p.G221R, p.A224V, p.G276R, p.W398R, and p.G401R. CONCLUSIONS:This study identified 3 novel mutations in THRB in RTH patients and 1 novel mutation in SLC16A2 in AHDS patients. Routine neonatal screening based on the TSH assay has a limited role in detecting RTH or AHDS. Therefore, genetic testing of the candidate genes THRB and SLC16A2 should be performed for diagnosis of RTH and AHDS in patients with the suggestive clinical phenotype.
journal_name
Horm Res Paediatrjournal_title
Hormone research in paediatricsauthors
Choi JH,Cho JH,Kim JH,Yoo EG,Kim GH,Yoo HWdoi
10.1159/000493468subject
Has Abstractpub_date
2018-01-01 00:00:00pages
283-290issue
5eissn
1663-2818issn
1663-2826pii
000493468journal_volume
90pub_type
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journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章
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journal_title:Hormone research in paediatrics
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章,多中心研究
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更新日期:2011-01-01 00:00:00
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pub_type: 杂志文章
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更新日期:2011-01-01 00:00:00
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pub_type: 杂志文章
doi:10.1159/000284359
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journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章,多中心研究
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journal_title:Hormone research in paediatrics
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doi:10.1159/000319315
更新日期:2011-01-01 00:00:00
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章
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更新日期:2012-01-01 00:00:00
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章,多中心研究
doi:10.1159/000351022
更新日期:2014-01-01 00:00:00
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章,评审
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更新日期:2020-01-01 00:00:00
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章,评审
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更新日期:2011-01-01 00:00:00
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章,评审
doi:10.1159/000324442
更新日期:2011-01-01 00:00:00
abstract:AIMS:To evaluate auxological parameters in children and adults with a 22q11.2 microdeletion syndrome (22q11.2 DS) and to compare prevalence of obesity to that in the French general population. METHODS:102 patients with 22q11.2 DS (49 males, 53 females) were recruited from birth to adulthood through a reference center ...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000328454
更新日期:2011-01-01 00:00:00
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journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章,多中心研究,随机对照试验
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pub_type: 杂志文章
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更新日期:2019-01-01 00:00:00
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章
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更新日期:2015-01-01 00:00:00
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章,评审
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更新日期:2011-01-01 00:00:00
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journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章,多中心研究
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章
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更新日期:2014-01-01 00:00:00
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000494726
更新日期:2018-01-01 00:00:00
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000510851
更新日期:2020-01-01 00:00:00