Resistance to thyrotropin: familial case report

Abstract

Two female dizygotic twins with subclinical primary hypothyroidism due to homozygous p.R450H mutation in TSHR gene are presented. A 5-year follow-up in both cases showed no progression of thyroid dysfunction. Indications for levothyroxine replacement in subclinical hypothyroidism are discussed.

Keywords

• subclinical hypothyroidism
• resistance to thyrotropin
• tshr
• children