hrp0092p1-188 | Diabetes and Insulin (1) | ESPE2019

A Novel Mutation in the Pancreatic Duodenal Homeobox-1(PDX-1) Gene in a Palestinian Family Resulting in Neonatal Diabetes Associated with Congenital Adrenal Hyperplasia

Abu-Libdeh Abdulsalam , Abedrabbo Amal , Abu-Libdeh Bassam

Background: PDX-1 gene is involved in the early development of the pancreas and plays a major role in glucose-dependent regulation of insulin gene expression. Defects in this gene cause pancreatic agenesis, which can lead to early-onset insulin-dependent diabetes mellitus (IDDM).Clinical Data: A 1-day-old male newborn, admitted to NICU due to antenatal diagnosis of duodenal atresia, polyhydramnios and IUGR. Laparotomy re...

hrp0092p1-305 | Adrenals and HPA Axis (2) | ESPE2019

Clinical Manifestations & Molecular Analysis of Four Palestinian Patients with Pseudohypoaldosteronism Type 1 (PHA 1) Revealing Four Novel Mutations in the ENaC Subunit Genes

Abu-Libdeh Abdulsalam , Abedrabbo Amal , Abu-Libdeh Bassam

Objectives: Pseudohypoaldosteronism type 1(PHA 1) is a rare hereditary disorder characterized by resistance to the actions of aldosterone. Two different modes of inheritance with different mechanisms and clinical manifestations have been described, Autosomal recessive that affects the epithelial sodium channel (ENaC),the defect is permanent and affects all aldosterone target organs. Autosomal dominant or sporadic PHA 1, affects the mineralocorticoid receptor i...

hrp0092p2-203 | Multisystem Endocrine Disorders | ESPE2019

Clinical Manifestations & Molecular analysis of Thirteen Palestinian Families with Sanjad Sakatti Syndrome Revealing a Common Deletion Founder Effect and Another Two Novel Mutations

Abu-Libdeh Abdulsalam , Abedrabbo Amal , Abu-Libdeh Bassam

Objectives: Sanjad-Sakatti syndrome or hypoparathyroidism-retardation-dysmorphism syndrome (HDRs) is a rare autosomal recessive multisystem disorder characterized by intrauterine and postnatal growth retardation, infantile-onset hypoparathyroidism that can result in severe hypocalcemic seizures, dysmorphic facial features, and developmental delay.Methods: Thirteen unrelated Palestinian infants to a consanguineous Palesti...