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Long-term follow-up results and treatment outcomes of children and adults with resistance to thyroid hormone alpha

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Abstract

Purpose

Resistance to thyroid hormone alpha (RTHα) is a rare entity and has no specific treatment. To date, mostly levothyroxine has been used, but there is a lack of knowledge about the long-term outcomes of this treatment. We aimed to evaluate the long-term follow-up results and treatment outcomes of children and their parents diagnosed with RTHα.

Methods

Four children [the median (minimum–maximum) age at diagnosis, 4.5 (1.4–9.5) years] and three adults [age at diagnosis, 31.7 (28.0–35.3) years] from two families were included in the study, who had RTHα and followed up between 2014 and 2021.

Results

The median duration of treatment was 6.7 (5.9–8.0) years, and the levothyroxine dose at the final visit was 1.4 (1.2–2.2) and 1.9 (1.2–2.4) mcg/kg/day for adults and pediatric patients, respectively. Treatment ameliorated constipation in all patients with this complaint (n = 5). Normal mental functions were achieved and IQ scores improved in most children except one (age at diagnosis, 9.5 years). At the final visit, creatine kinase levels relative to the reference upper limit were significantly lower compared to the pre-treatment ratios [0.9 (0.2–1.3) vs. 1.3 (0.5–1.6), p = 0.028]. Anemia was present in five patients at diagnosis, which resolved in one adult patient but occurred in one child despite treatment (p = 0.999). A minimal pericardial effusion persisted in one pediatric patient.

Conclusions

We demonstrated that constipation was ameliorated, neuromotor development of some children was improved, and creatine kinase levels were diminished with levothyroxine treatment in patients with RTHα, while some features including anemia did not resolve.

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Data availability

Data sharing is not applicable to this article, as no datasets were generated or analyzed during the current study.

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Acknowledgements

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Funding

No funding was received for conducting this study.

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Authors and Affiliations

  1. Division of Pediatric Endocrinology, Faculty of Medicine, Dokuz Eylül University, İzmir, Turkey

    I. M. Erbaş & K. Demir

  2. Division of Pediatric Endocrinology, Eskişehir State Hospital, Eskişehir, Turkey

    M. D. Çakır

  3. Division of Endocrinology and Metabolism, Faculty of Medicine, Dokuz Eylül University, İzmir, Turkey

    A. S. Yener

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  1. I. M. Erbaş
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  3. A. S. Yener
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  4. K. Demir
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Contributions

İbrahim Mert Erbaş and Korcan Demir contributed to the study conception and design. Material preparation, data collection, and analysis were performed by all authors. The first draft of the manuscript was written by İbrahim Mert Erbaş and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

Corresponding author

Correspondence to K. Demir.

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Conflict of interests

The authors have no relevant financial or non-financial interests to disclose.

Ethics approval

This study was performed in line with the principles of the Declaration of Helsinki. Approval was granted by the Ethics Committee of Dokuz Eylül University Faculty of Medicine (Approval number: 2022/02–07).

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Informed consent was obtained from all individual participants and parents of pediatric cases included in the study.

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Patients signed informed consent regarding publishing their data and photographs.

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Erbaş, I.M., Çakır, M.D., Yener, A.S. et al. Long-term follow-up results and treatment outcomes of children and adults with resistance to thyroid hormone alpha. J Endocrinol Invest 46, 1855–1863 (2023). https://doi.org/10.1007/s40618-023-02043-1

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  • DOI: https://doi.org/10.1007/s40618-023-02043-1

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