hrp0086fc5.5 | Management of Disorders of Insulin Secretion | ESPE2016

DPP-4 Inhibitor is an Alternative Effective Treatment in a Common Cause of Anti-GAD Negative “Type 1 Diabetes” - A Founder CISD2 Mutation

Abdulhag Ulla Najwa , Weinberg-Shukron Ariella , Abdelhadi Maha Atwan , Leibovitz Gil , Levy-Lahad Ephrat , Aurbach Adi , Lavi Eran , Abassi Muntaser , Wilchansky Michael , Libdeh Abdelsalam Abu , Zangen David

Background: Wolfram syndrome type 2 (WFS2) characterized by childhood GI ulcers/ bleeding, diabetes, and neurodegeneration with optic atrophy and hearing loss was recently elucidated as caused by CISD2/NAF-1 gene mutation. NAF-1 suppression in cells results in intra-mitochondrial accumulation of iron, increased ROS generation and consequently increased cellular apoptosis. So far only two mutations in four families were reported.Objective: Elucidate the c...

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...

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...

hrp0089p2-p299 | Multisystem Endocrine Disorders P2 | ESPE2018

The N309K Pro-Protein Convertase Type 1 (PCSK1) Gene Mutation Causes Lack of Spontaneous Puberty and Primary Amenorrhea

Abdulhag Ulla Najwa , Sharaf Mona , Libdeh Abdulsalam Abu , Zangen David

Introduction: PCSK1/3 gene mutations are known as a cause for congenital diarrhea and various endocrinopathies. Hypogonadotrophic hypogonadism and aberrant pubertal development due to pro-convertase dysfunction was not characterized yet. This study aimed to characterize the pubertal development in a family carrying the novel N309K mutation in the PCSK1 gene.Methods and Results: We Identified 2 siblings who presented with severe congenital diarrhea follow...

hrp0092fc11.3 | Pituitary, Neuroendocrinology and Puberty Session 2 | ESPE2019

A Novel Genetic Aetiology for Familial Neonatal Central Diabetes Insipidus

lavi Eran , Sharaf Muna , Abu-Libdeh Abdulsalam , Renbaum Pinchas , Levy-Lahad Ephrat , Zangen David

Background: Central diabetes insipidus (CDI) in the neonatal age is usually a result of intracranial insult, either congenital or acquired. Familial CDI is usually an autosomal dominant disorder, presenting later in childhood (1-6 y) with polyuria and mostly caused by mutations in the Neurophysin II moiety of the AVP-NPII prohormone gene; these interfere with prohormone processing leading to gradual destruction of AVP secreting cells and result in arginine vas...

hrp0084p1-9 | Adrenal | ESPE2015

Founder Effect and the Clinical and Molecular Characteristics in a Cohort of Classical and Non-Classical Congenital Lipoid Adrenal Hyperplasia Due To StAR Mutations

Abu-Libdeh Abdulsalam , Shokrun Ariella Weinberg , Levy-Lahad Ephrat , Admoni Osnat , Tenenbaum-Rakover Yardena , Zangen David

Background: Classical and non-classical congenital lipoid adrenal hyperplasia (CLAH) are extremely rare condition caused by mutations in StAR. The degree of enzyme activity impairment determines the clinical phenotypes.Objective and hypotheses: To identify the genetic cause of primary adrenal insufficiency in a cohort of patients from 13 unrelated families with classical and non-classical CLAH, to correlate genotype to phenotype and to identify ...

hrp0094p1-184 | Pituitary B | ESPE2021

The pituitary gonadal axis is not responsive to GnRH administration in PCSK 1 dysfunction

Mendelsohn Espen Eliyahu , Lavi Eran , Cahn Ranit , Sharaf Muna , Abu Libdeh Abdulsalam , Zangen David ,

Introduction: Patients homozygous for mutation in the PCSK-1 gene present clinically with severe congenital diarrhea and variable hormonal defects due to lack of enzyme/prohormone processing by Prohormone Convertase 1/3 (PC1/3). Although absence of spontaneous puberty has been reported in patients with PCSK-1 mutations, no peptide hormone(s) in the hypothalamus-pituitary-gonadal axis (HPG) have been reported to be dependent on PC1/3 cleavage. Here we studied t...