hrp0084p2-353 | Fat | ESPE2015

A New Mutation of PCSK1 Revealed by Neonatal Malabsorptive Diarrhoea, Panhypopituitarism, and Major Obesity

Bouhours-Nouet Natacha , Donzeau Aurelie , Decrequy Anne , Goideau Marion , Ziegler Alban , Colin Estelle , Bonneau Dominique , Coutant Regis

Background: Proprotein convertase subtilisin/kexin types 1 and 2 (PCSK1 and PCSK2) are expressed in neuroendocrine tissues where they cleave a subset of inactive prohormones into biologically active hormones, including pro-opiomelanocortin (POMC), proTRH, proinsulin, proglucagon, and proGnRH. Congenital deficiency of PCSK1 is a very rare syndrome causing malabsorptive diarrhea contrasting with severe early-onset obesity and hypopituitarism. We described here a new case of cong...