A novel thyroid hormone receptor alpha gene mutation, clinic characteristics, and follow-up findings in a patient with thyroid hormone resistance
Sign Up to like & getrecommendations! Published in 2019 at "Hormones"
DOI: 10.1007/s42000-019-00094-9
Abstract: Thyroid hormone receptor alpha (THRA) gene mutation is a thyroid hormone resistance syndrome characterized by near-normal thyroid function tests and tissue-specific hypothyroidism. In this case study, we report a novel de novo p.G291S heterozygous mutation… read more here.
Keywords: gene mutation; hormone; thyroid hormone; hormone resistance ... See more keywords
Thyroid hormone resistance syndrome with P453T mutation in thyroid hormone receptor β gene
Sign Up to like & getrecommendations! Published in 2020 at "Medicine"
DOI: 10.1097/md.0000000000022824
Abstract: Abstract Rationale: Thyroid hormone resistance syndrome (THRS) is an inherited condition characterized by reduced responsiveness of target tissues to thyroid hormone. Due to their nonspecific symptomatic manifestations, these patients can be misdiagnosed. This study reports… read more here.
Keywords: mutation; resistance syndrome; gene; hormone ... See more keywords
Thyroid hormone resistance index and mortality in euthyroid subjects: [email protected] study.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of endocrinology"
DOI: 10.1530/eje-21-0640
Abstract: OBJECTIVE It has been proposed that a mild form of acquired resistance to thyroid hormone may occur in the general population. Its clinical significance remains largely unknown. The objective was to explore whether a newly… read more here.
Keywords: thyroid hormone; resistance; mortality; index ... See more keywords