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...

hrp0084p1-131 | Thyroid | ESPE2015

Increased Detection Rate of Paired Box Domain Gene Mutations by Application of Multiplex Ligation-Dependent Probe Amplification Analysis in Patients with Primary Congenital Hypothyroidism and Thyroid Dysgenesis

Kumorowicz-Czoch Malgorzata , Hermanns Pia , Madetko-Talowska Anna , Pohlenz Joahim

Background: The contribution of mutations in paired box domain (PAX8) gene in children with congenital hypothyroidism (CH) and thyroid dysgenesis (TD) still remains a subject of interest of researchers. While quantitative PCR and direct sequencing concentrate on single gene fragment analysis and identification of point mutations, multiplex ligation-dependent probe amplification (MLPA) analysis might improve the detection rate of PAX8 mutations in patients wit...

hrp0092fc5.5 | Thyroid | ESPE2019

Identification of TRPC4AP as a Novel Candidate Gene Causing Thyroid Dysgenesis

Eberle Birgit , Choukair Daniela , Vick Philipp , Hermanns Pia , Weiß Birgit , Paramasivam Nagarajan , Schlesner Matthias , Wiemann Stefan , Roeth Ralph , Klutmann Carina , Hoffmann Georg F. , Pohlenz Joachim , Rappold Gudrun A. , Bettendorf Markus

Background: Congenital hypothyroidism (CH) is the most common endocrine disorder in neonates and is predominantly caused by developmental abnormalities known as thyroid dysgenesis (TD). Several transcription factors have been described in its aetiology, but defects in the known genes only account for a small proportion of cases.Methods: To identify novel genes involved in TD, we performed exome sequencing in 7 unrelated ...