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Primary hypothyroidism: an unusual manifestation of Wolcott–Rallison syndrome

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Abstract

Wolcott–Rallison syndrome has been reported to be associated with early-onset diabetes, epiphyseal dysplasia, hepatic and renal dysfunction, mental retardation, severe growth retardation, neutropenia, exocrine pancreatic dysfunction, and central hypothyroidism. We report on primary hypothyroidism, which has not been previously described, of a patient with Wolcott–Rallison syndrome due to novel mutation (W521X), who showed improved growth after thyroid hormone treatment.

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Acknowledgments

We thank Sian Ellard and Oscar Rubio-Cabezas for the genetic analysis of our patients.

Conflict of interest

The authors have no conflicts of interest.

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Authors and Affiliations

  1. Division of Pediatric Endocrinology and Metabolism, School of Medicine, Celal Bayar University, Manisa, 45000, Turkey

    Betül Ersoy, Bayram Özhan & Seniha Kiremitçi

  2. Department of Endocrinology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain

    Oscar Rubio-Cabezas

  3. Department of Molecular Genetics Royal Devon and Exeter NHS Foundation Trust Church Lane, Exeter, EX2 5AD, UK

    Sian Ellard

Authors
  1. Betül Ersoy
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  2. Bayram Özhan
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  3. Seniha Kiremitçi
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  4. Oscar Rubio-Cabezas
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  5. Sian Ellard
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Corresponding author

Correspondence to Seniha Kiremitçi.

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Ersoy, B., Özhan, B., Kiremitçi, S. et al. Primary hypothyroidism: an unusual manifestation of Wolcott–Rallison syndrome. Eur J Pediatr 173, 1565–1568 (2014). https://doi.org/10.1007/s00431-013-2110-8

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  • DOI: https://doi.org/10.1007/s00431-013-2110-8

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