Table 2.

Genes associated to CH, in relation to its etiology.

Type of CH	Gene	Heredity	Phenotype	Associated diseases
Thyroid dysgenesis	TSHR	AD/AR	variable (from gland in situ to complete hypoplasia)	/
	Nkx2.1 (Ttf-1)	AD	variable	neurological phenotype (choreoathetosis), respiratory distress
	FOXE1 (Ttf-2)	AR	athyreosis, severe hypoplasia	cleft palate, choanal atresia, spiky hair
	Nkx2-5	?	gland in situ, variable	congenital heart disease
	Glis3	AR	variable (gland in situ, athyreosis)	neonatal diabetes, polycistic kidneys, cholestasis, dysmorphic facies, congenital glaucoma, skeletal abnormalities, learning difficulties
	Pax-8	AD	variable	renal and urogenital tract anomalies
	JAG1	AD	thyroid hypoplasia, variable	heart defect and hepatic cholestasis
	NTN1	?	thyroid ectopy	arthrogryposis, congenital heart disease
	CDCA8 (BOREALIN)	AD/AR	thyroid ectopy, variable	congenital heart disease (?)
	TUBB1	AD	gland ectopy (mainly)	platelet hyperaggregation
	TRPC4AP	AD	gland hypoplasia	/
	GBP1	AD/AR	dysgenesis or normal gland	/
Dyshormonogenesis	SLC5A5 (NIS)	AR	goiter iodine uptake absent/- high thyroglobulin	late neurodevelopmental delay (rare)
	SLC26A4 (PDS)	AR	goiter (+/-) iodine uptake +, PIOD high thyroglobulin	Pendred syndrome (sensorineural deafness with enlarged vestibular aqueduct)
	DUOX1 /DUOX2		goiter (+/-); (ectopy) iodine uptake +, PIOD or TIOD high thyroglobulin
	DUOXA2	AR	goiter iodine uptake +, PIOD or TIOD high thyroglobulin
	TPO	AR	goiter (+/-) iodine uptake +, TIOD, high thyroglobulin
	TG	AR	congenital or rapidly growing goiter iodine uptake +, perchlorate - low thyroglobulin
	IYD (DEHAL1)	AR (incomplete penetrance)	goiter or normal gland iodine uptake =, perchlorate - high thyroglobulin MIT and DIT in serum and urine	late neurodevelopmental delay (rare)
	SLC26A7	AR	goiter iodine uptake =, PIOD high thyroglobulin

AD, autosomal dominant; AR, autosomal recessive; PIOD, partial iodine organification defect; TIOD, total iodine organification defect; MIT, monoiodotyrosine; DIT, diiodotyrosine.