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SAT450 High Diagnostic Yield Of NGS Analysis In Congenital Hypothyroidism With Thyorid Dyshormongenesis

Disclosure: E. Joo: None. S. Kim: None. J. Lee: None. Introduction: Congenital hypothyroidism is the most common neonatal metabolic disorder and detected at a rate of 1 in 3000 to 4000 live births. 10-15 % of congenital hypothyroidism is caused by thyroid dyshormonogenesis. And Its clinical manifest...

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Autores principales: Joo, Eunyoung, Kim, Sujin, Lee, Ji-Eun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10554801/
http://dx.doi.org/10.1210/jendso/bvad114.1925
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author Joo, Eunyoung
Kim, Sujin
Lee, Ji-Eun
author_facet Joo, Eunyoung
Kim, Sujin
Lee, Ji-Eun
author_sort Joo, Eunyoung
collection PubMed
description Disclosure: E. Joo: None. S. Kim: None. J. Lee: None. Introduction: Congenital hypothyroidism is the most common neonatal metabolic disorder and detected at a rate of 1 in 3000 to 4000 live births. 10-15 % of congenital hypothyroidism is caused by thyroid dyshormonogenesis. And Its clinical manifestations are individually different. Thus, to evaluate exact causes and predict clinical course for congenital thyroid dyshormonogenesis and establish precise strategies for treatment, we conduct Next-Generation Sequencing (NGS) to patients who diagnosed congenital hypothyroidism with normal thyroid gland and analysis the results. Methods: We conducted NGS to 31 patients patients who were diagnosed congenital hypothyroidism with normal contour of thyroid gland in ultrasonography from Jan. 2018 to April. 2022 in a single university hospital. We also analyzed their thyroid function test results, dose of levothyroxine and clinical manifestations. Result: Among the 31 patients, 25patients were detected from NGS. 4patients have oligogenic mutations. 7 DUOX2 variants were detected in 7 patients (22.6%), 3 DUOXA2 variants were detected in 4 patients (12.9%), 4 TSHR variants were detected in 7 patients (22.6%) 5 TG variants were detected in 4 patients (12.9%), 2 GLIS3 variants in 2 patients (6.5%), 1 TPO variants in 1 patient, 1 THRB variants in 1 patient, 1 NKX2-1 variants in 1 patient, 1 TRH variants in 1 patient, 1 SLC5A5 variants in 1 patient. The patients with GLIS3 stop levothyroxine at 3years old and have remission. The patients with DUOX2 variants and DUOXA2 variants showed low remission rate. DUOXA2 variants has high association with goiter. None of the patients with TSHR c.1349G>A mutation to stop medicine. But patients with other mutation of TSHR stop levothyroxine at 3 years old and have remission. None of the patients with TG variants showed remission. The patients with GLIS3 have remission at 3 years old. Conclusions: We cautiously recommend that using the NGS to strategize treatment plan for CH based on the clinical manifestations and genetic analysis of the family members of the index patients. Presentation: Saturday, June 17, 2023
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spelling pubmed-105548012023-10-06 SAT450 High Diagnostic Yield Of NGS Analysis In Congenital Hypothyroidism With Thyorid Dyshormongenesis Joo, Eunyoung Kim, Sujin Lee, Ji-Eun J Endocr Soc Thyroid Disclosure: E. Joo: None. S. Kim: None. J. Lee: None. Introduction: Congenital hypothyroidism is the most common neonatal metabolic disorder and detected at a rate of 1 in 3000 to 4000 live births. 10-15 % of congenital hypothyroidism is caused by thyroid dyshormonogenesis. And Its clinical manifestations are individually different. Thus, to evaluate exact causes and predict clinical course for congenital thyroid dyshormonogenesis and establish precise strategies for treatment, we conduct Next-Generation Sequencing (NGS) to patients who diagnosed congenital hypothyroidism with normal thyroid gland and analysis the results. Methods: We conducted NGS to 31 patients patients who were diagnosed congenital hypothyroidism with normal contour of thyroid gland in ultrasonography from Jan. 2018 to April. 2022 in a single university hospital. We also analyzed their thyroid function test results, dose of levothyroxine and clinical manifestations. Result: Among the 31 patients, 25patients were detected from NGS. 4patients have oligogenic mutations. 7 DUOX2 variants were detected in 7 patients (22.6%), 3 DUOXA2 variants were detected in 4 patients (12.9%), 4 TSHR variants were detected in 7 patients (22.6%) 5 TG variants were detected in 4 patients (12.9%), 2 GLIS3 variants in 2 patients (6.5%), 1 TPO variants in 1 patient, 1 THRB variants in 1 patient, 1 NKX2-1 variants in 1 patient, 1 TRH variants in 1 patient, 1 SLC5A5 variants in 1 patient. The patients with GLIS3 stop levothyroxine at 3years old and have remission. The patients with DUOX2 variants and DUOXA2 variants showed low remission rate. DUOXA2 variants has high association with goiter. None of the patients with TSHR c.1349G>A mutation to stop medicine. But patients with other mutation of TSHR stop levothyroxine at 3 years old and have remission. None of the patients with TG variants showed remission. The patients with GLIS3 have remission at 3 years old. Conclusions: We cautiously recommend that using the NGS to strategize treatment plan for CH based on the clinical manifestations and genetic analysis of the family members of the index patients. Presentation: Saturday, June 17, 2023 Oxford University Press 2023-10-05 /pmc/articles/PMC10554801/ http://dx.doi.org/10.1210/jendso/bvad114.1925 Text en © The Author(s) 2023. Published by Oxford University Press on behalf of the Endocrine Society. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs licence (https://creativecommons.org/licenses/by-nc-nd/4.0/), which permits non-commercial reproduction and distribution of the work, in any medium, provided the original work is not altered or transformed in any way, and that the work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Thyroid
Joo, Eunyoung
Kim, Sujin
Lee, Ji-Eun
SAT450 High Diagnostic Yield Of NGS Analysis In Congenital Hypothyroidism With Thyorid Dyshormongenesis
title SAT450 High Diagnostic Yield Of NGS Analysis In Congenital Hypothyroidism With Thyorid Dyshormongenesis
title_full SAT450 High Diagnostic Yield Of NGS Analysis In Congenital Hypothyroidism With Thyorid Dyshormongenesis
title_fullStr SAT450 High Diagnostic Yield Of NGS Analysis In Congenital Hypothyroidism With Thyorid Dyshormongenesis
title_full_unstemmed SAT450 High Diagnostic Yield Of NGS Analysis In Congenital Hypothyroidism With Thyorid Dyshormongenesis
title_short SAT450 High Diagnostic Yield Of NGS Analysis In Congenital Hypothyroidism With Thyorid Dyshormongenesis
title_sort sat450 high diagnostic yield of ngs analysis in congenital hypothyroidism with thyorid dyshormongenesis
topic Thyroid
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10554801/
http://dx.doi.org/10.1210/jendso/bvad114.1925
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