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A Positive Newborn Screen for Congenital Hypothyroidism in a Clinically Euthyroid Neonate—Avoiding Unnecessary Treatment

Newborn screening for congenital hypothyroidism (CH) has dramatically improved the neurocognitive outcomes for newborns with a confirmed positive screening test result. However, screening yields a small number of false positive and false negative results. This report describes the first known case o...

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Detalles Bibliográficos
Autores principales: Brown, Ashleigh, Hofman, Paul, Li, Bobby, Heron, Campbell, Heather, Natasha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10123723/
https://www.ncbi.nlm.nih.gov/pubmed/37092510
http://dx.doi.org/10.3390/ijns9020016
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author Brown, Ashleigh
Hofman, Paul
Li, Bobby
Heron, Campbell
Heather, Natasha
author_facet Brown, Ashleigh
Hofman, Paul
Li, Bobby
Heron, Campbell
Heather, Natasha
author_sort Brown, Ashleigh
collection PubMed
description Newborn screening for congenital hypothyroidism (CH) has dramatically improved the neurocognitive outcomes for newborns with a confirmed positive screening test result. However, screening yields a small number of false positive and false negative results. This report describes the first known case of familial dysalbuminaemic hyperthyroxinaemia presenting with a positive newborn thyroid stimulating hormone screen. This condition is characterized by artefactually elevated free tetraiodothyronine (T4) and triiodothyronine (T3) levels due to increased albumin binding and subsequent dissociation during laboratory assays but normal true free thyroid hormone and thyroid stimulating hormone (TSH) levels in a clinically euthyroid subject. This highlights the need to take care when attributing clinical significance to discordant results.
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spelling pubmed-101237232023-04-25 A Positive Newborn Screen for Congenital Hypothyroidism in a Clinically Euthyroid Neonate—Avoiding Unnecessary Treatment Brown, Ashleigh Hofman, Paul Li, Bobby Heron, Campbell Heather, Natasha Int J Neonatal Screen Case Report Newborn screening for congenital hypothyroidism (CH) has dramatically improved the neurocognitive outcomes for newborns with a confirmed positive screening test result. However, screening yields a small number of false positive and false negative results. This report describes the first known case of familial dysalbuminaemic hyperthyroxinaemia presenting with a positive newborn thyroid stimulating hormone screen. This condition is characterized by artefactually elevated free tetraiodothyronine (T4) and triiodothyronine (T3) levels due to increased albumin binding and subsequent dissociation during laboratory assays but normal true free thyroid hormone and thyroid stimulating hormone (TSH) levels in a clinically euthyroid subject. This highlights the need to take care when attributing clinical significance to discordant results. MDPI 2023-03-23 /pmc/articles/PMC10123723/ /pubmed/37092510 http://dx.doi.org/10.3390/ijns9020016 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Brown, Ashleigh
Hofman, Paul
Li, Bobby
Heron, Campbell
Heather, Natasha
A Positive Newborn Screen for Congenital Hypothyroidism in a Clinically Euthyroid Neonate—Avoiding Unnecessary Treatment
title A Positive Newborn Screen for Congenital Hypothyroidism in a Clinically Euthyroid Neonate—Avoiding Unnecessary Treatment
title_full A Positive Newborn Screen for Congenital Hypothyroidism in a Clinically Euthyroid Neonate—Avoiding Unnecessary Treatment
title_fullStr A Positive Newborn Screen for Congenital Hypothyroidism in a Clinically Euthyroid Neonate—Avoiding Unnecessary Treatment
title_full_unstemmed A Positive Newborn Screen for Congenital Hypothyroidism in a Clinically Euthyroid Neonate—Avoiding Unnecessary Treatment
title_short A Positive Newborn Screen for Congenital Hypothyroidism in a Clinically Euthyroid Neonate—Avoiding Unnecessary Treatment
title_sort positive newborn screen for congenital hypothyroidism in a clinically euthyroid neonate—avoiding unnecessary treatment
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10123723/
https://www.ncbi.nlm.nih.gov/pubmed/37092510
http://dx.doi.org/10.3390/ijns9020016
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