hrp0082p1-d1-238 | Thyroid | ESPE2014

Homozygous Deletion of The TSHβ Subunit Gene Causes Congenital Secondary Hypothyroidism in a Consanguineous Family of Turkish Descent

Hermanns Pia , Klotz Cherize , Couch Robert , Leonard Norma , Pohlenz Joachim

Background: A 6-week-old male was admitted for investigation of prolonged jaundice. The pregnancy was unremarkable with a normal at term delivery. The neonatal screening was unremarkable. The boy was born to consanguineous parents of Turkish descent.Objective and hypotheses: At presentation serum levels of thyrotropin, T4 and T3 were low and prolactin slightly elevated. Venous TSH was undetectable low. Central hypothyroidism was dia...