Fig. 2. Pedigree analysis, Sanger validation, and thyroid function follow-up of two patients carrying TSHR biallelic variants. (A) Genotypes and pedigrees of two patients with TSHR biallelic variants. Roman numerals indicate generations. Squares denote males, and circles denote females. Gray filling represents individuals carrying p.G132R variants, and black filling denotes individuals carrying p.R450H variants. Arrows indicate the probands. The patients’ parents were euthyroid, with a normal-sized thyroid gland. (B) Sanger sequencing of the patients and their family members. The red boxes denote variants. F represents father, and M represents mother. (C) Long-term follow-up of thyroid function in two patients (CHT558 and CHT573). The red and blue broken lines represent the dynamic changes in serum TSH and FT4 levels, respectively. The two red and blue dotted lines indicate the upper and lower reference intervals of serum TSH and FT4 levels, respectively.
Abbreviations: TSH, thyroid-stimulating hormone; TSHR, TSH receptor; FT4, free thyroxine; L-T4, levothyroxine.

Ann Lab Med 2024;44:343~353 https://doi.org/10.3343/alm.2023.0337