ea0033oc2.9 | Oral Communications 2 | BSPED2013
Schoenmakers Nadia
, Cangul Hakan
, Nicholas Adeline K
, Schoenmakers Erik
, Lyons Greta
, Dattani Mehul
, Peters Catherine
, Langham Shirley
, Habeb Abdelhadi M
, Deeb Asma
, Puthi Vijith
, Park Soo-Mi
, Muzza Marina
, Persani Luca
, Fugazzola Laura
, Maher Eamonn
, Chatterjee V Krishna
Introduction: Less than 20% of congenital hypothyroidism (CH) has a known genetic aetiology; thyroid transcription factor mutations (PAX8, Nkx2.1, Nkx2.5, FOXE1) or biallelic TSHR mutations cause <5% of thyroid dysgenesis (TD), whereas mutations in genes mediating thyroid hormone biosynthesis (TPO, TG, DUOX2, DUOXA2, IYD, SLC5A5, SLC26A4) account for most dyshormonogenesis cases. Increased CH frequency in consanguineous populations, relatives of ...