Challenging diagnosis of thyroid hormone resistance initially as Hashimoto’s thyroiditis
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Tong Wooi Ch’ng
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.
Conflict of interest: None declared.
Authors contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
References
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Articles in the same Issue
- Frontmatter
- Mini Review
- Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature
- Original Articles
- Assessment of biomarkers of inflammation and premature atherosclerosis in adolescents with type-1 diabetes mellitus
- Frequency, clinical characteristics, biochemical findings and outcomes of DKA at the onset of type-1 DM in young children and adolescents living in a developing country – an experience from a pediatric emergency department
- Hepatopathies in children and adolescents with type 1 diabetes
- Comparative evaluation of neuroendocrine dysfunction in children with craniopharyngiomas before and after mass effects are removed
- Functional and endocrine-metabolic oligomenorrhea: proposal of a new diagnostic assessment tool for differential diagnosis in adolescence
- Socioeconomic status of the population – a prime determinant in evaluating iodine nutritional status even in a post salt iodization scenario
- Long-term outcome of hyperthyroidism diagnosed in childhood and adolescence: a single-centre experience
- Thyroid function in patients with Prader-Willi syndrome: an Italian multicenter study of 339 patients
- Maternal factors associated with neonatal vitamin D deficiency
- IGF-1 assessed by pubertal status has the best positive predictive power for GH deficiency diagnosis in peripubertal children
- One-year treatment with gonadotropin-releasing hormone analogues does not affect body mass index, insulin sensitivity or lipid profile in girls with central precocious puberty
- Letter to the Editor
- Prediabetes in children and adolescents in the United States: prevalence estimates and comorbidities – a population analysis
- Case Reports
- Severe in utero under-virilization in a 46,XY patient with Silver-Russell syndrome with 11p15 loss of methylation
- Carney complex due to a novel pathogenic variant in the PRKAR1A gene – a case report
- Challenging diagnosis of thyroid hormone resistance initially as Hashimoto’s thyroiditis
