hrp0084p3-1208 | Thyroid | ESPE2015

Congenital Central Hypothyroidism due to a Homozygous Mutation in the TSHB Gene – Just Think about It!

Flury Monika , Naeke Andrea , Di Donato Nataliya , Hahn Gabriele , Huebner Angela

Background: Congenital primary hypothyreoidism occurs in about 1 of 3 600 life births and is usually detected with newborn screening. Early levothyroxine treatment is the prerequisite for normal psychomotor development of affected children. However, patients suffering from congenital central hypothyroidism are missed by the screening procedure, which may lead to delayed diagnosis and therapy. In very rare cases central hypothyroidism is caused by isolated TSH deficiency due to...