hrp0086p1-p198 | Diabetes P1 | ESPE2016

Neonatal Siabetes, Gallbladder Agenesis and Cholestatic Giant Cell Hepatitis: A Novel Homozygote Mutation in PDX-1 Gene

Ozturk Mehmet Adnan , Ozdemir Ahmet , Gul Ulku , Hatipoglu Nihal , Korkut Sabriye , Ceylan Mahir , Kurtoglu Selim

Background: It is known that PDX-1 gene mutation is related to neonatal diabetes, pancreas agenesis and intrauterine growth retardation. Here the aim was to present a novel defined mutation in PDX-1 gene in case born with IUGR, diagnosed with neonatal diabetes and in which exocrine pancreas deficiency and gallbladder agenesis were detected.Case presentation: Blood glucose was measured as 185 mg/dl in the first hour after birth and insulin infusion was gi...

hrp0086p2-p709 | Endocrinology and Multisystemic Diseases P2 | ESPE2016

Neonatal Endocrinological Problems in Collodion Babies

Ozdemir Ahmet , Korkut Sabriye , Kurtoglu Selim , Hatipoglu Nihal , Gunes Tamer , Ozturk Mehmet Adnan

Background: Collodion babies (CBs) are an inherited group of diseases characterized clinically by diffuses severely dry and scaling skin. Patients are generally born prematurely and/or small for gestational age (SGA). Congenital hypothyroidism is seen together with various congenital anomalies, although the mechanism involved is still unclear.Objective and hypotheses: To identify endocrinological problems, and particularly those concerning growth, in 42 ...