hrp0098p1-307 | Late Breaking 2 | ESPE2024

The man in the LOOP: Ramadan fast in Type 1 diabetic patients with a Closed Loop automated insulin delivery system

Abraham Schuldenfrei Yonatan , Sharaf Al-Hayek Narmeen , Cohen Amitay , Eliyahu Mendelsohn Espen , Abu Libdeh Abedelsalam , Lavi Eran , Zangen David

Background: Fasting during Ramadan, starting daily before sunrise and ending at sunset, with traditional rich meals at "Sohoor" (pre-dawn) and "Fotoor" (evening break of fast). is common among Muslims from 8 years of age. Recent use of the closed loop automated insulin delivery system (CLAIDS) including insulin pump and glucose sensor has become staple treatment of type 1 diabetes (T1D) patients and reported to safely manage glucose fluctua...

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...

hrp0098p3-191 | Pituitary, Neuroendocrinology and Puberty | ESPE2024

Exaggerated mini puberty vs central precocious puberty in an extreme preterm female, To treat or not to treat?

Abu-Libdeh Abdulsalam

Background: Mini-puberty is one of the most essential events of infancy, with intermittent alterations that relate to puberty presentations, and it is critical for sexual development in both sexes. It represents the maturation of sexual organs after activation of the hypothalamic-pituitary-gonadal (HPG) axis during the neonatal period, resulting in high gonadotropin and sex steroid levels; allows for the development of the genital organs and creates the basis ...

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...

hrp0097p1-41 | Diabetes and Insulin | ESPE2023

ADIPOQ gene (adiponectin) causing neonatal diabetes mellitus in a Palestinian newborn

Abu-Libdeh Abdulsalam , Zanged David

Background: Monogenic diabetes is a type of diabetes resulting from mutations of a single gene that may be spontaneous de novo or autosomal dominant or recessive. Reported incidence is 1-4% and confirmed by molecular genetic testing. Transient neonatal diabetes is usually diagnosed within the first week of life and resolves around 12 weeks. Permanent neonatal diabetes should be considered in all children presenting with diabetes in first month of age, and do n...

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...

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...