Article
Clinically Symptomatic Resistance to Thyroid Hormone β Syndrome Because of THRB Gene Mosaicism.
The Journal of clinical endocrinology and metabolism - 18 Aug 2022
Donnars Anne, Leplat Alice, Grosheny Catherine, Briet Claire, Illouz Frédéric, Bouzamondo Nathalie, Moal Valérie, De Casson Florence Boux, Bouhours-Nouet Natacha, Coutant Régis, Rodien Patrice, Mirebeau-Prunier Delphine, Dieu Xavier
Abstract excerpt
CONTEXT: Resistance to thyroid hormone β syndrome (RTHβ) is caused by pathogenic variants in the THRB gene, but such variants are found in only 85% of cases. We report the case of a patient with RTHβ phenotype but for whom we found a pathogenic variant of the THRB gene in a mosaic state. CASE DESCRIPTION: The patient is a 52-year-old woman with clinical and biological signs of RTHβ. Symptoms included asthenia,...
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