The Mutant Thyroid Hormone Receptor Beta R320P Causes Syndrome of Resistance to Thyroid Hormone

Table 1

Laboratory data of the index patient and his son. The son’s data are indicated in italic. Data beyond normal ranges are underlined. Normal ranges of thyroid function tests in adults are shown in brackets.

CBC				Thyroid function tests
Leukocytes (×10^2/mm^3)	112	Albumin (g/dL)	3.8	TSH (μIU/mL) [0.4-4]	1.982
Neutrophils (%)	59.0	AST (IU/L)	15	Free T3 (pg/mL) [2.1-3.9]	4.99
Eosinophils (%)	16.1	ALT (IU/L)	13	Free T4 (ng/dL) [0.85-1.85]	2.76
Basophils (%)	0	γ-GTP (IU/L)	18	TRAb (IU/L) [<0.9]	0
Lymphocytes (%)	17.8	LDL-Cho (mg/dL)	97	TgAb (IU/mL) [<5]	0.51
Monocytes (%)	7.1	Triglyceride (mg/dL)	92
Erythrocytes (×10^4/mm^3)	518	HDL-Cho (mg/dL)	41
Hemoglobin (g/dL)	14.7	BUN (mg/dL)	14.9	Thyroid function tests (son)
Hematocrit (%)	44.1	Creatinine (mg/dL)	0.8	TSH (μIU/mL)	3.013
Platelets (×10^4/mm^3)	37.6	eGFR (ml/min)	95.1	Free T3 (pg/mL)	6.18
		Na (mEq/L)	137	Free T4 (ng/dL)	2.95
Biochemistry		K (mEq/L)	4.1
Total protein (g/dL)	7.3	Cl (mEq/L)	100