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The thyroid hormone (TH) plays a pivotal role in the intricate orchestration of physiological processes, exerting profound effects on development, metabolism, and homeostasis throughout different life stages.
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Thyrotoxicosis in MCT8 deficiency.

Kristien Boelaert1, Andrew Bauer2, Anne R Cappola3

  • 1Department of Applied Health, School of Health Sciences, College of Medicine and Health, University of Birmingham, Birmingham B15 2FG, UK.

The Journal of Clinical Endocrinology and Metabolism
|January 9, 2026
PubMed
Summary
This summary is machine-generated.

Monocarboxylate transporter 8 (MCT8) deficiency, or Allan-Herndon-Dudley syndrome, is a rare genetic disorder impacting thyroid hormone transport. Early recognition and treatment of thyrotoxicosis are vital for managing this debilitating condition.

Keywords:
SLC16A2Allan–Herndon–Dudley syndromeMCT8MCT8 deficiencythyroid dysfunctionthyroid hormonethyrotoxicosis

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Area of Science:

  • Genetics
  • Endocrinology
  • Neuroscience

Background:

  • Monocarboxylate transporter 8 (MCT8) deficiency, also known as Allan-Herndon-Dudley syndrome, is a rare genetic disorder.
  • It is caused by variants in the SLC16A2 gene, leading to dysfunctional MCT8 thyroid hormone transporter.
  • MCT8 is crucial for thyroid hormone transport in the brain and periphery.

Purpose of the Study:

  • To summarize the key aspects of MCT8 deficiency.
  • To highlight the dual clinical presentations of the disorder.
  • To emphasize the importance of managing thyrotoxicosis.

Main Methods:

  • Review of existing literature on MCT8 deficiency.
  • Analysis of clinical presentations and genetic basis.
  • Discussion of diagnostic and therapeutic considerations.

Main Results:

  • MCT8 deficiency results in persistent peripheral thyrotoxicosis and central hypothyroidism.
  • Affected individuals exhibit severe neurodevelopmental impairment.
  • Reduced life expectancy with significant childhood mortality.

Conclusions:

  • MCT8 deficiency is a severe, life-limiting genetic disorder.
  • Thyroid hormone dysregulation impacts multiple organ systems.
  • Timely diagnosis and management of thyrotoxicosis are essential for improving outcomes.