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Table 1 Clinical features of genetic syndromes associated with congenital hypothyroidism

From: Congenital hypothyroidism: insights into pathogenesis and treatment

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