hrp0082p2-d1-515 | Pituitary | ESPE2014

High Prevalence of PROP1 Gene Defects Among Patients with Multiple Pituitary Hormone Deficiency in Lithuania

Navardauskaite Ruta , Dusatkova Petra , Obermannova Barbora , Pfaeffle Roland W , Blum Werner F , Adukauskiene Dalia , Smetanina Natalija , Cinek Ondrej , Verkauskiene Rasa , Lebl Jan

Background: Mutations in PROP1 are the most common known genetic cause of congenital multiple pituitary hormone deficiency (MPHD).Objective and hypotheses: Aim of our study was to clinically and genetically characterize a cohort of Lithuanian patients with MPHD.Method: Seventy-six Lithuanian MPHD patients were tested for PROP1 gene by Sanger sequencing. Hormonal investigations, pituitary imaging and GH therapy wer...