PMC5061635_01
Pedigree of the family and results of thyroid function test before and after treatment. Round and square symbols denote females and males, respectively. Each generation corresponds to a roman number. Arabic numbers above each symbol identify the subjects. Laboratory data are aligned below each symbol. Abnormal values are in bold number. Filled and open symbols denote hypothyroid and euthyroid subjects, respectively. Gray symbol denotes presence of heterozygous PAX8 gene mutation. Question mark in the symbol of subject I-2 indicates that while she likely carried the PAX8 gene mutation, this was not confirmed as she was diseased at the time the genetic study was undertaken. Abbreviations: TSH, thyroid-stimulating hormone; FT4; free thyroxine.
nihms780901f1.jpg
PMC5061635_01_nihms780901f1.jpg
F1
Of the three generations studied 9 males and 4 females were affected and 3 were unaffected first degree relatives (Figure 1).