hrp0089p2-p388 | Thyroid P2 | ESPE2018

Clinical Course in a Girl with Two hTPO Mutations – Homozygous c.1268G>A (p.Gly393Arg) and Heterozygous c.208C>G (p.Ala70Pro): 27 Years of Follow Up

Stoeva Iva , Mihova Kalina , Koleva Reni , Zheliaskov Mitko , Stoilov Boris , Kaneva Radka

Of the several genetic defects responsible for thyroid dyshormonogenesis, mutations in TPO gene are the most prevalent causes of inherited defects in CH. Prevalent mutations are in exons 8-11 (catalytic site).Case presentation: Girl, born at 16d after term, before the introduction of the neonatal screening, with asphyxia, BL 55 cm, BW 4 kg. Because of insufficient weight gain, feeding difficulties, prolonged jaundice she was referred to a pediatric endoc...