hrp0095p2-300 | Thyroid | ESPE2022

Thyroid Function and Congenital Heart Defects in Children with Down Syndrome at Hasan Sadikin General Hospital, Bandung, Indonesia

Andriyani Dwi , Novina Novina , Rayani Apandi Putria , Faisal Faisal , Budi Kuswiyanto Rahmat , Endah Rahayuningsih Sri

Introduction: Down Syndrome (DS) is a genetic disorder that has a high mortality rate and a large number of comorbidities such as hypothyroidism and heart disease. Thyroid hormones have significant effects on cardiovascular. This study aims to describe thyroid function and congenital heart defects in Down Syndrome children at dr. Hasan Sadikin General Hospital.Methods: This is a cross-sectional study. The inclusion crite...

hrp0095p2-77 | Diabetes and Insulin | ESPE2022

Rituximab Role in Preservation of Pancreatic Beta Cells in Patients Newly Diagnosed With Type 1 Diabetes Mellitus: A Report of 2 Palestinian Cases.

Eida Hasan , Mansour Ahmad , Eleyan Tamara

Type 1 diabetes mellitus (T1DM) is a condition caused by the clonal generation of autoantibodies by B cells. Rituximab, an immunosuppressive agent, has been shown in studies to protect pancreatic function in individuals newly diagnosed with type 1 diabetes mellitus (T1DM). We investigated the effects of rituximab in two individuals with newly diagnosed T1DM. Case 1 was a 10-year-old boy, and Case 2 was a 4-year-old girl, both of whom had T1DM. Insulin secretion capability was ...

hrp0098p3-230 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

Does Primary Ovarian Failure associate with Monogenic Diabetes Mellitus

Sharaf Muna , Alaaraj Nada , Eideh Hasan

Background: Primary ovarian insufficiency (POI) manifests with delayed puberty, primary amenorrhea, and elevated levels of gonadotropins (LH, FSH). A variability in genetic factors in the origin of POI has been reported so far. Here we are reporting a case of POI with non-immune diabetes mellitus and mild intellectual disability suspected to have Woodhouse-Sakati Syndrome.Case presentation: A 14 year and 4 months old ado...

hrp0092p1-248 | Multisystem Endocrine Disorders | ESPE2019

A Novel AIRE Gene Mutation in Two Siblings Revealing Different Phenotypes of Autoimmune Polyendocrine Syndrome Type 1

Yildiz Melek , Aydin Banu , Gezdirici Alper , Onal Hasan

Background: Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare autoimmune disease characterized by chronic mucocutaneous candidiasis, hypoparathyroidism and primary adrenal insufficiency. Minor components of the disease are diverse among patients, even within the same family. APS-1 is autosomal recessively inherited and caused by biallelic mutations in the autoimmune regulator (AIRE) gene.Objective and Hypotheses...

hrp0092p3-45 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Acute Lymphoblastic Leukemia;Atypically Presenting with Sever Hypercalcemia in a Palestinian Child

Eideh Hasan , Zaid Mahdi , Saleh Hani , Abu Alrub Shorouq

Severe hypercalcemia with total serum calcium concentrations above 15 mg/dL is a serious nonspecific life-threatening emerging disorder. Hypercalcemia usually results in nonspecific classic gastrointestinal and skeletal symptoms as anorexia, nausea, weakness, polyuria, constipation and bone pain. It can be associated with metabolic, nutritional, inflammatory, genetic or malignant disorders, or can be drug-induced. Malignancy related hypercalcemia develops more aggressively and...

hrp0086p2-p789 | Pituitary and Neuroendocrinology P2 | ESPE2016

A Patient with Multiple Endocrine Neoplasia Type 1 Presented with Precocious Puberty

Akcan Nese , Mousa Umut , Sav Hasan , Bundak Ruveyde

Background: Multiple Endocrine Neoplasia Type 1 (MEN1) is an autosomally transmitted hyperplastic or neoplastic disorders of some endocrine and non-endocrine organs. Pituiatry tumors develop in 30–70% of patients with MEN1. Mean age at onset of MEN1 associated pituitary tumors is the 4th decade and its occurence before and during puberty is very rare. Although there are two case reports about MEN1 and delay puberty, early and rapidly progressive puberty with MEN1 has no r...

hrp0084p3-875 | Fat | ESPE2015

İnsulin Infusion Treatment Option in Severe Hypertriglyceridaemia Induced Pancreatitis

Ustyol Ala , Atabek Mehmet Emre , Yuksekkaya Hasan Ali , Dorum Meltem

Background: The risk of pancreatitis increases when triglyceride levels rise above 1 000 mg/dl. This requires particular attention in subjects with type 2 diabetes, which is accompanied by elevated triglyceride levels in one in every two patients. Apheresis, a treatment option in pancreatitis developing secondary to hypertriglyceridemia, is expensive and not available in every centre. Another option, heparin administration, may result in rebound hypertriglyceridaemia. Thirdly,...

hrp0094p2-100 | Diabetes and insulin | ESPE2021

The knowledge and Confidence in Management of Diabetic Ketoacidosis (DKA) among Iraqi Paediatric Residents: a Cross Sectional Study

Alsaffar Hussain , Al-Jumaili Ali Hasan , Hadi Wasnaa ,

Introduction: Diabetic ketoacidosis (DKA) is a common medical emergency and is the most common cause of death in children with type 1 diabetes mellitus due its complications. Paediatric residents are usually the first line whom managing paediatric emergencies in Iraqi hospitals. They form the backbone of the provided service. It is important to make sure they are practicing at the highest possible standard to ensure patientsÂ’ safety. Therefore, it is cruc...

hrp0097rfc10.6 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) & Multisystem endocrine disorders | ESPE2023

Two novel mutations in the DCAF17 gene in two Palestinian families with primary amenorrhea revealing molecular genetics in Woodhouse-Sakati syndrome & unique presentation

Abu-Libdeh Abdulsalam , Florsheim Natan , Eideh Hasan , Zangen David

Background: Woodhouse-Sakati syndrome (WSS) is an extremely rare autosomal recessive multisystem disease. Ectodermal system findings, such as alopecia and changes in facial skin, endocrinological problems including hypogonadism, hypothyroidism, diabetes mellitus (DM), and decreased levels of insulin-like growth factor I (IGF-I), neurological disorders such as hearing loss and progressive extrapyramidal involvement are the components of this syndrome. The syndr...

hrp0098p2-59 | Diabetes and Insulin | ESPE2024

Impact of Telemonitoring on Glycemic Control in Pediatric Patients with Type 1 Diabetes Mellitus

Fawaz Lubna , Badawi Nora , Hasan Mostafa , Shamma Radwa

Background: Telehealth programmes can provide purposeful and relevant solutions to facilitate management and interactions between patients with diabetes and healthcare professionals.Patients & Methods: A case control study was conducted from June 2021 till August 2022 on 140 children and adolescents with Type 1 diabetes following at outpatient clinic of DEMPU (Diabetes Endocrine and Metabolism Pediatric Unit) at Cair...