hrp0089p3-p258 | Growth & Syndromes P3 | ESPE2018

Late Referral of Siblings with Combined Pituitary Hormone Deficiency (PROP1)

Hasanbegovic Snijezana , Kljucic Amila

Background: PROP1 (Prophet of POUF1) mutations are the most frequent genetic cause of combined anterior pituitary hormone deficiency. The PROP1 gene encodes a transcription factor of synthesis: somatotrophs, lactotrophs, thyreotrops and gonadothrops. These mutations are characterized by great clinical variability, including time of onset of hormonal deficiencies, hypophyseal dimensions and secretion of cortisol.Objective and hypothesis: Referral of child...