Congenital Hypothyroidism Caused by a PAX8 Gene Mutation Manifested as Sodium/Iodide Symporter Gene Defect

Table 1

Laboratory findings in the patient.

Values of filter paper at neonatal screening
TSH (mU/L) (normal range $0.1~10$)	62.8
Values at the time of the first evaluation (Serum)
17 days of age
TSH (mU/L) (normal range $0.34~3.5$)	202.7
T4 (nmol/L) (normal range $59.2~161.2$)	91.2
T3 (nmol/L) (normal range $1.22~2.76$)	1.88
^123I thyroid scan (%)^a at 1, 3, 24 h	4.8, 5.8, 2.9
Saliva/Serum ^123ratio^b at 2 h and 4 h	4.5, 3.8

Thyroid scan was performed at age of 6 years a, normal above 10%–35%, b, normal above 20.