Alopecia: Association with Resistance to Thyroid Hormones

January 2009 in “ Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism ”

Tülay Güran, Rıfat Bircan, Serap Turan, Abdullah Bereket

alopecia resistance to thyroid hormone TRbeta mutation I353V diffuse alopecia patchy alopecia local alopecia alopecia totalis universalis goiter hairless gene HR gene hair follicles RTH TRbeta HR

TLDR A specific thyroid hormone resistance mutation may be linked to different types of hair loss.

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.

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