Article
[A case of thyroid hormone resistance syndrome due to previously undescribed mutation in the THRA gene].
Problemy endokrinologii - 22 Jul 2025
Skorodok Y L, Grabchak T S, Plotnikova E V, Suspitsin E N, Ioffe I Y, Kozhevnikova A V, Zabinsky V D, Ivanov D O
Abstract excerpt
Thyroid hormone resistance (THR) syndrome is characterized by decreased sensitivity of peripheral tissues to active forms of thyroid hormones. We present a clinical case of a patient, demonstrating symptoms of hypothyroidism while having subnormal FT4 and normal TSH and total T3 levels. Massive parallel sequencing allowed us to identify a previously undescribed heterozygous THRA c.1198C>G (p.Leu400Val) variant...
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