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 | ||