. Author manuscript; available in PMC: 2018 Jun 1.

Published in final edited form as: Endocrinol Metab Clin North Am. 2017 Mar 6;46(2):375–388. doi: 10.1016/j.ecl.2017.01.005

Table 3.

Causes of Abnormalities in TH Action (Syndromes of impaired sensitivity to TH).

Gene	Chr Location	FT₄	TSH	rT₃	FT₃	Goiter	Mode of Inherit	Comments
MCT8	Xq13.2	Dec	Inc	Dec	Inc	No	X-linked	Severe neuropsychiatriac abnormalities
SBP-2 (SECISBP2)	9q22.2	Inc	N,In	Inc	Dec	No	Unknown	Defect in deiodination of T₄ to T₃
THRB	3p24.2	Inc	N,In	Inc	Inc	Yes	AD; >400 cases	Goiter; ADHD; some growth issues
THRA	17q21.1	Dec	N,Inc	Dec	N-Inc	No	AD	Cleft palate Choanal atresia Spiky hair

Inc, In, increase; dec, decrease; N, normal; chr, chromosome; AD autosomal dominant