We have many times had discussions here about how difficult it can be to be certain of thyroid diagnoses. This is a short paper which highlights one instance.
J Pediatr Endocrinol Metab. 2019 Jan 25. pii: /j/jpem.ahead-of-print/jpem-2018-0284/jpem-2018-0284.xml. doi: 10.1515/jpem-2018-0284. [Epub ahead of print]
Challenging diagnosis of thyroid hormone resistance initially as Hashimoto's thyroiditis.
Ch'ng TW1, Chin VL1.
Author information
1 Department of Pediatrics, Division of Pediatric Endocrinology, SUNY Downstate Medical Center, Brooklyn, NY, USA.
Abstract
Background
Resistance to thyroid hormone (RTH) commonly presents with goiter, attention deficit hyperactivity disorder (ADHD), short stature and tachycardia. However, due to its variable presentation with subtle clinical features, a third of the cases are mistreated, typically as hyperthyroidism.
Case presentation
A 15-year-old female with ADHD and oligomenorrhea was initially diagnosed as Hashimoto's thyroiditis but found to have a rare heterozygous mutation in c803 C>G (p Ala 268 Gly) in the THRβ gene, confirming resistance to thyroid hormone.
Conclusions
Fluctuating thyroid function tests in addition to thyroid peroxidase antibody (TPO Ab) positivity complicated the diagnosis of RTH, initially diagnosed as Hashimoto's thyroiditis. A high index of suspicion is needed to prevent misdiagnosis and mistreatment.
KEYWORDS:
Hashimoto’s thyroiditis; THRβ gene mutation; resistance to thyroid hormone
PMID: 30681972
DOI: 10.1515/jpem-2018-0284
