hrp0084p3-1223 | Thyroid | ESPE2015

Clinical Course in a Girl with hTPO Mutation R161I in Exon 5: 18 Years of Follow-Up

Stoeva Iva , Ambrugger Petra , Stoilov Boris , Dineva Ganka , Biebermann Heike , Grueters Annette

Background: 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 term (s.c) picked up by TSH screening and start of LT4 treatment at d14 with 14 μg/kg per day (table 1), clinical signs: no goiter, hypotonia, dry skin, posterior fontanel >5 mm, ...