Thyroid Hormone Resistance in a Family due to a Mutation in the Receptor Beta Gene (p.M313V)

Frederico Vieira and Mushtaq A Godil

Department of Pediatrics, Oklahoma University, USA
Department of Pediatric, Geisinger Medical Center, Danville, USA

^*Correspondance to: Frederico Vieira 

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Abstract:

Context: Resistance to Thyroid Hormone (RTH) is a rare disease characterized by reduced Thyroid (TH) hormone sensitivity due to a defect at the site of hormone action at the receptor level.Case Description: We are reporting a mutation in the β receptor gene that presented with RTH in 3 generations of family members with variable symptomatology within family members.

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Cite the Article:

Vieira F, Godil MA. Thyroid Hormone Resistance in a Family due to a Mutation in the Receptor Beta Gene (p.M313V). Ann Clin Case Rep. 2019; 4: 1641.