hrp0092p3-210 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Homozygosity for Proopiomelanocortin (POMC) Mutation in a Palestininan Child

Abu-Libdeh Abdulsalam , Abu-Libdeh Bassam

Background: Congenital Proopiomelanocortin deficiency (POMC) is a rare autosomal recessive disorder characterized by the association of adrenal insufficiency, early onset obesity, hyperphagia and altered skin & hair pigmentation. POMC is a complex propeptide encoding a range of melanocortin peptides that are released by tissue-specific proteolytic processing. These peptides have important roles in a range of functions such as skin pigmentation and the cont...

hrp0092p3-298 | Late Breaking Abstracts | ESPE2019

Mitchell-Riley Syndrome, A Report of Novel Mutation in a Palestinian Family Resulting in Neonatal Diabetes

Abu-Libdeh Abdulsalam , Abu-libdeh Bassam

Introduction: Mitchell Riley syndrome is a rare autosomal disorder, characterized by severe neonatal diabetes associated with hypoplastic or annular pancreas, duodenal or jejunal atresia, intestinal malrotation, gallbladder hypoplasia or agenesis, and cholestatic disease, less common features were reported such as severe neonatal anemia, hemochromatosis and biliary atresia.Mitchell-Riley syndrome is caused by a mutation in regulatory fac...