Searchable abstracts of presentations at key conferences in endocrinology

ea0037oc7.1 | Neuroendocrinology and pituitary-basic | ECE2015

Genetic screening of regulatory regions of pituitary transcription factors among patients with idiopathic pituitary hormone deficiencies

Schuilwerve Joyce , Elizabeth Melitza , Peeters Robin , Visser Theo , Hokken-Koelega Anita , de Graaff Laura

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...

ea0063gp175 | Obesity (1) | ECE2019

Normal IGF-bioactivity and low free IGF-I in patients with Prader-Willi syndrome with high total serum IGF-I: immunoreactive IGF-I concentrations poorly reflect IGF bio-activity and bio-availability

Pellikaan Karlijn , Elizabeth Melitza , Donze Stephany , van den Berg Sjoerd , van Doorn Jaap , Peeters Robin P , Hokken-Koelega Anita CS , de Graaff Laura CG

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...