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      Low free thyroxine and normal thyroid-stimulating hormone in infants and children: possible causes and diagnostic work-up

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          Abstract

          Screening for hypo- or hyperthyroidism in adults is generally done by measuring the serum thyrotropin (thyroid-stimulating hormone, TSH) concentration. This is an efficient approach in case of suspected acquired thyroid disease. However, in infants and children, congenital hypothalamus-pituitary-thyroid (HPT) axis disorders also need to be considered, including primary and central congenital hypothyroidism, and even rarer thyroid hormone receptor and transporter defects. In primary congenital hypothyroidism, TSH will be elevated, but in the other congenital HPT axis disorders, TSH is usually within the normal range. Free thyroxine (FT4) assessment is essential for the diagnosis in these conditions.

          Conclusion: Here we discuss a number of rare congenital HPT axis disorders in which TSH is normal, but FT4 is low, and provide a clinical algorithm to distinguish between these disorders.

          What is Known:

          • A single thyroid-stimulating hormone (TSH) measurement is an appropriate screening method for primary hypothyroidism.

          • For central hypothyroidism and rare thyroid hormone receptor and transporter defects a free thyroxine (FT4) measurement is essential for the diagnosis because TSH is usually normal.

          What is New:

          • Here we present a new problem-oriented clinical algorithm including a diagnostic flow-chart for low FT4 and normal TSH in infants and children.

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          Most cited references13

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          Thyroid function in critically ill patients.

          Eric Fliers, Antonio Bianco, Lies Langouche … (2015)
          Patients in the intensive care unit (ICU) typically present with decreased concentrations of plasma tri-iodothyronine, low thyroxine, and normal range or slightly decreased concentration of thyroid-stimulating hormone. This ensemble of changes is collectively known as non-thyroidal illness syndrome (NTIS). The extent of NTIS is associated with prognosis, but no proof exists for causality of this association. Initially, NTIS is a consequence of the acute phase response to systemic illness and macronutrient restriction, which might be beneficial. Pathogenesis of NTIS in long-term critical illness is more complex and includes suppression of hypothalamic thyrotropin-releasing hormone, accounting for persistently reduced secretion of thyroid-stimulating hormone despite low plasma thyroid hormone. In some cases distinguishing between NTIS and severe hypothyroidism, which is a rare primary cause for admission to the ICU, can be difficult. Infusion of hypothalamic-releasing factors can reactivate the thyroid axis in patients with NTIS, inducing an anabolic response. Whether this approach has a clinical benefit in terms of outcome is unknown. In this Series paper, we discuss diagnostic aspects, pathogenesis, and implications of NTIS as well as its distinction from severe, primary thyroid disorders in patients in the ICU.
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            Thyroid Hormone Transporters

            Stefan Groeneweg, Ferdy van Geest, Robin Peeters … (2020)
            Thyroid hormone transporters at the plasma membrane govern intracellular bioavailability of thyroid hormone. Monocarboxylate transporter (MCT) 8 and MCT10, organic anion transporting polypeptide (OATP) 1C1, and SLC17A4 are currently known as transporters displaying the highest specificity toward thyroid hormones. Structure-function studies using homology modeling and mutational screens have led to better understanding of the molecular basis of thyroid hormone transport. Mutations in MCT8 and in OATP1C1 have been associated with clinical disorders. Different animal models have provided insight into the functional role of thyroid hormone transporters, in particular MCT8. Different treatment strategies for MCT8 deficiency have been explored, of which thyroid hormone analogue therapy is currently applied in patients. Future studies may reveal the identity of as-yet-undiscovered thyroid hormone transporters. Complementary studies employing animal and human models will provide further insight into the role of transporters in health and disease.
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              DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives

              C. Peters, A. S. P. van Trotsenburg, N Schoenmakers (2018)
              Congenital hypothyroidism (CH) may be primary, due to a defect affecting the thyroid gland itself, or central, due to impaired thyroid-stimulating hormone (TSH)-mediated stimulation of the thyroid gland as a result of hypothalamic or pituitary pathology. Primary CH is the most common neonatal endocrine disorder, traditionally subdivided into thyroid dysgenesis (TD), referring to a spectrum of thyroid developmental abnormalities, and dyshormonogenesis, where a defective molecular pathway for thyroid hormonogenesis results in failure of hormone production by a structurally intact gland. Delayed treatment of neonatal hypothyroidism may result in profound neurodevelopmental delay; therefore, CH is screened for in developed countries to facilitate prompt diagnosis. Central congenital hypothyroidism (CCH) is a rarer entity which may occur in isolation, or (more frequently) in association with additional pituitary hormone deficits. CCH is most commonly defined biochemically by failure of appropriate TSH elevation despite subnormal thyroid hormone levels and will therefore evade diagnosis in primary, TSH-based CH-screening programmes. This review will discuss recent genetic aetiological advances in CH and summarize epidemiological data and clinical diagnostic challenges, focussing on primary CH and isolated CCH.
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                Author and article information

                Contributors
                Peter Lauffer: p.lauffer@amsterdamumc.nl
                A. S. Paul van Trotsenburg: a.s.vantrotsenburg@amsterdamumc.nl
                Nitash Zwaveling-Soonawala:
                ORCID: http://orcid.org/0000-0003-0318-5541
                n.zwaveling@amsterdamumc.nl
                Journal
                Journal ID (nlm-ta): Eur J Pediatr
                Journal ID (iso-abbrev): Eur J Pediatr
                Title: European Journal of Pediatrics
                Publisher: Springer Berlin Heidelberg (Berlin/Heidelberg )
                ISSN (Print): 0340-6199
                ISSN (Electronic): 1432-1076
                Publication date (Electronic): 13 February 2021
                Publication date PMC-release: 13 February 2021
                Publication date (Print): 2021
                Volume: 180
                Issue: 7
                Pages: 2333-2338
                Affiliations
                GRID grid.7177.6, ISNI 0000000084992262, Department of Pediatric Endocrinology, Emma Children’s Hospital, Amsterdam University Medical Center, , University of Amsterdam, ; Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
                Author notes

                Communicated by Peter de Winter

                Author information
                http://orcid.org/0000-0003-0318-5541
                Article
                Publisher ID: 3976
                DOI: 10.1007/s00431-021-03976-6
                PMC ID: 8195777
                PubMed ID: 33585976
                SO-VID: 4cea5794-8ab4-4226-8199-63a6ed6785dc
                Copyright © © The Author(s) 2021
                License:

                Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

                History
                Date received : 20 November 2020
                Date revision received : 9 January 2021
                Date accepted : 2 February 2021
                Categories
                Subject: Clinical Algorithm
                Custom metadata
                issue-copyright-statement © Springer-Verlag GmbH Germany, part of Springer Nature 2021

                ScienceOpen disciplines: Pediatrics
                Keywords: ft4,tsh,central hypothyroidism,children
                Data availability:
                ScienceOpen disciplines: Pediatrics
                Keywords: ft4, tsh, central hypothyroidism, children

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