Endocrine Abstracts

Introduction: POU1F1 is a pituitary transcription factor, critical for differentiation of pituitary somatotrophs, thyrotrophs and lactotrophs. POU1F1 expression depends on the presence of PROP1, which attenuates expression of transcriptional repressor HESX1. Previous mutation screening of POU1F1 coding exons in our cohort of patients with combined pituitary hormone deficiency (CPHD) showed POU1F1 mutations in only 1% of the families. We hypo...