Case Report.

Journal: Acta endocrinologica (Bucharest, Romania : 2005)
Published Date: Jan 1, 2021

Abstract

BACKGROUND: Thyroid hormone resistance (RTH) is defined as a decrease in response to thyroid hormones in the target tissue. Most patients present with nonspecific findings. In this article, we aimed to represent a 22-year-old female patient who presented with palpitation, fatigue, and heat intolerance. She was thought to have thyroid hormone resistance and her genetic examination revealed NM_001128177.1 (THRβ): c.1034G > A (p.Gly345Asp) pathogenic variation in the THRβ gene.

Authors

  • B Almacan
    "Celal Bayar" University, Faculty of Medicine, Department of Internal Medicine, Istanbul, Turkey.
  • N Ozdemir
    Division of Endocrinology and Metabolism, Manisa, Trakya University, Faculty of Medicine, Istanbul, Turkey.
  • H Gürkan
    Department of Medical Genetics, Istanbul, Turkey.
  • S Gul
    Istanbul University, Faculty of Sciences, Biology Department Biotechnology Division, Istanbul, Turkey.
  • S Guldiken
    Department of Internal Medicine, Division of Endocrinology and Metabolism, Edirne, Istanbul, Turkey.
  • Z Hekimsoy
    Division of Endocrinology and Metabolism, Manisa, Trakya University, Faculty of Medicine, Istanbul, Turkey.

Keywords

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