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...

Introduction: Prader-Willi Syndrome (PWS) is a complex syndrome including hyperphagia, pituitary hormone deficiencies, low muscle mass and cognitive impairment. Treatment with recombinant Growth Hormone (GH) has beneficial effects on body composition, physical performance, cognition, psychomotor development, respiratory function, and quality of life of patients with PWS. GH treatment has a narrow therapeutic range. Clinicians measure serum immunoreactive Insulin-like Growth Fa...