Publications by authors named "Maiko Kakita"
Article Synopsis
- SITSH is linked to resistance to thyroid hormone (RTH) resulting from mutations in the TRβ receptor, which can present with variable symptoms in affected individuals.
- A case study of a 16-year-old girl revealed a goiter and inconsistent SITSH, initially misdiagnosed as euthyroid Hashimoto thyroiditis, indicating the complexity of RTH presentations.
- Genetic analysis of the girl and her mother identified a TRβ mutation (p.R316C) and suggested that the prevalence of RTHβ is likely underestimated, as its symptoms can vary significantly even among carriers of the same mutation.
