Alopecia: Association with Resistance to Thyroid Hormones
Studysummary This study reports a novel TRbeta gene mutation associated with resistance to thyroid hormone syndrome, which may contribute to various forms of alopecia in the affected family members. Our plain-language summary of this paper — not a Tressless recommendation.
The study described a family with resistance to thyroid hormone (RTH) syndrome caused by a novel TRbeta mutation (I353V) and its association with various forms of alopecia. The index patient, a 9-year-old boy, exhibited diffuse, patchy alopecia without autoimmune thyroid disease, and the same mutation was found in his father and elder brother, who also had local alopecia. Other family members with alopecia had either goiter or alopecia totalis universalis, but not all had the TRbeta mutation. Genetic analysis of the hairless gene (HR) was normal for the family. The researchers speculated that the RTH due to the I353V TRbeta mutation might be linked to different alopecia phenotypes, potentially through direct effects on hair follicles or interactions with the HR gene.
