Table 1.

Clinical features of genetic syndromes associated with congenital hypothyroidism

Primary congenital hypothyroidism		Central congenital hypothyroidism
PAX8	Renal abnormalities	IGSF1	Macro-orchidism, delayed pubertal testosterone rise, PRL deficiency, transient GH deficiency
NKX2–1	Interstitial lung disease, chorea	TBL1X	Hearing deficits
FOXE1	Cleft palate, bifid epiglottis, choanal atresia, spiky hair (Bamforth-Lazarus syndrome)	LEPR	Severe early-onset obesity, delayed puberty
NKX2–5	Congenital heart disease	POU1F1	Combined pituitary hormone deficiency
GLIS3	Neonatal diabetes mellitus, congenital glaucoma, developmental delay, hepatic fibrosis, polycystic kidneys	PROP1	Combined pituitary hormone deficiency
JAG1	Alagille syndrome (variable involvement of liver, heart, eye, skeletal, facial defects), congenital heart disease	HESX1	Combined pituitary hormone deficiency, optic nerve hypoplasia
SLC26A4	Sensorineural hearing loss	LHX3	Combined pituitary hormone deficiency, cervical abnormalities, sensorineural deafness
		LHX4	Combined pituitary hormone deficiency, cerebellar abnormalities
		SOX3	Combined pituitary hormone deficiency, craniofacial abnormalities
		OTX2	Combined pituitary hormone deficiency, micro−/anophthalmia, seizures