Late Referral of Siblings with Combined Pituitary Hormone Deficiency (PROP1)
7 ES P E Poster presented at: LATE REFERRAL OF SIBILINGS WITH COMBINED PITUITARY HORMONE DEFICIENCY (PROP1) Snijezana Hasanbegovic, Amila Kljucic Division for Childrens' Health, Pediatric Clinic 1 Clinical Center University of Sarajevo Bosnia and Herzegovina 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. INTRODUCTION