Clinical and genetic investigation in patients with permanent congenital hypothyroidism

Zhou, Li-Na; Liu, Shuang; Long, Wei; Wang, Leilei; Yu, Bin

doi:10.1016/j.cca.2022.11.007

Cited by 2 publications

(1 citation statement)

References 29 publications

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“…Our systematic search identified a total of 5222 records with 24 being deemed eligible and included in the systematic review (eTable 3 in Supplement 1). Of these, 20 studies were included in the meta-analysis.…”

Section: Resultsmentioning

confidence: 99%

Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Short Stature

Li,

Chen,

Wang

et al. 2023

JAMA Pediatr

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ImportanceCurrently, the diagnostic yield of exome sequencing (ES) and chromosomal microarray analysis (CMA) for short stature cohorts is uncertain. Despite previous studies reporting the widespread use of ES and CMA, a definitive diagnostic yield has not been established.ObjectiveTo investigate the diagnostic yield of ES and CMA in short stature.Data SourcesA systematic literature search was conducted using relevant keywords in 3 databases (PubMed, Embase, and Web of Science) in February 2023.Study SelectionEligible studies for meta-analysis were those that had at least 10 participants with short stature who were diagnosed using either ES or CMA and the number of diagnosed patients was reported. Of 5222 identified studies, 20 were eventually included in the study.Data Extraction and SynthesisTwo independent investigators extracted relevant information from each study, which was then synthesized using proportional meta-analysis to obtain the overall diagnostic yield of ES and CMA.Main Outcomes and MeasuresThe primary outcome measure was to determine the overall diagnostic yield of ES and CMA. A subgroup meta-analysis was also performed to assess if the diagnostic yield varied depending on whether ES was used as a first-tier or last-resort test. Additionally, a meta-regression was carried out to investigate how the diagnostic yield varied over time.ResultsTwenty studies were included, comprising 1350 patients with short stature who underwent ES and 1070 patients who completed CMA. The overall diagnostic yield of ES among the cohorts and CMA among the cohorts was found to be 27.1% (95% CI, 18.1%-37.2%) and 13.6% (95% CI, 9.2%-18.7%), respectively. No statistically significant difference was observed between the first-tier (27.8%; 95% CI, 15.7%-41.8%) and last-resort groups (25.6%; 95% CI, 13.6%-39.6%) (P = .83) or in the percentage of positively diagnosed patients over time. No statistically significant difference was observed between the first-tier (27.8%; 95% CI, 15.7%-41.8%) and last-resort groups (25.6%; 95% CI, 13.6%-39.6%) (P = .83) or in the percentage of positively diagnosed patients over time.Conclusion and RelevanceThis systematic review and meta-analysis provides high-level evidence supporting the diagnostic efficacy of ES and CMA in patients with short stature. The findings serve as a solid reference for clinicians when making informed decisions about recommending these genetic tests.

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Section: Resultsmentioning

confidence: 99%

Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Short Stature

Li,

Chen,

Wang

et al. 2023

JAMA Pediatr

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Permanent vs Transient Congenital Hypothyroidism in Chinese Children: Physical Growth and Predictive Nomogram

Ding,

Liu,

Zhang

et al. 2023

The Journal of Clinical Endocrinology &Amp; Metabolism

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Context Few reliable markers are available to distinguish transient congenital hypothyroidism (TCH) and permanent congenital hypothyroidism (PCH). Additionally, the differences in growth between TCH and PCH remain unclear. Objective To investigate the growth of children with TCH and PCH and develop a nomogram for early differentiation of these forms. Methods This retrospective study included children with TCH or PCH. The predictive efficacy of the prognostic predictors was analyzed using receiver operating characteristic analysis. Multivariate prediction models were developed. Measurements of growth were compared between groups. Results Patients with TCH had lower initial TSH than those with PCH at newborn screening (NBS). The supplementary dose of levothyroxine (L-T4) gradually decreased with age in TCH but not in PCH. The area under the curve (AUC) values of the initial TSH, L-T4 dose at 1 year of age, and L-T4 dose at 2 years of age for distinguishing TCH from PCH were 0.698, 0.71, and 0.879, respectively. The predictive efficacy of the multivariate models at 1 and 2 years of age improved, with AUC values of 0.752 and 0.922, respectively. A nomogram was built based on the multivariate model at 1 year of age. The growth did not differ between children with TCH and those with PCH. However, at 1 year of age, girls with CH exhibited higher z-scores in terms of height and weight than boys with CH. Conclusions TSH at NBS and L-T4 doses during treatment can be used to distinguish between PCH and TCH early in life, and the predictive efficacy can be improved using multivariable models with a visualized nomogram. At 3 years of age, patients with TCH and PCH showed similar growth.

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Clinical and genetic investigation in patients with permanent congenital hypothyroidism

Cited by 2 publications

References 29 publications

Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Short Stature

Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Short Stature

Permanent vs Transient Congenital Hypothyroidism in Chinese Children: Physical Growth and Predictive Nomogram

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