hrp0092p1-24 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Novel Homozygous LRP5 Mutations in Patients with Osteoporosis-Pseudoglioma Syndrome

Saffari Fatemeh , Heidari Abolfazl , Esmailzadehha Neda , Homaei Ali

Background: Osteoporosis pseudoglioma syndrome (OPPG) characterized by congenital or early onset blindness with severe juvenile onset osteoporosis. OPPG is a rare autosomal recessive disorder due to loss of function mutation in the low-density lipoprotein receptor like protein 5 (LRP5).Methods: Two patients (siblings) underwent clinical examination, including a complete ophthalmic evaluation. Diagnosis of OPPG was based ...

hrp0089p3-p179 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Comparison of the Phenylketonuria Phenotypes in Qazvin Province Before and After Neonatal Screening Until 2017

Saffari Fatemeh , Taherkhani Camelia , Esmailzadehha Neda , Homaei Ali

Background: Phenylketonuria (PKU) is an autosomal recessive disorder that primarily affects the brain. Patients are at risk for intellectual disability, developmental disorder, hyperactivity, seizure, autism, and so on. The aim of this study was to compare the PKU phenotypes in Qazvin province, Iran before and after neonatal screening until 2017.Methods: All children with PKU (61 patients) in Qazvin province, Iran who had been diagnosed before a...

hrp0086p2-p323 | Diabetes P2 | ESPE2016

Prevalence of Acute Metabolic Complications in Children with Type I Diabetes Admitted to the Children Hospital in Qazvin, Iran (2005–2014)

Saffari Fateme , Dargahi Maryam , Esmailzadehha Neda , Yazdi Zohre , Homaei Ali

Background: Type 1 diabetes (T1D) is one of the most common chronic diseases in childhood and adolescence. Diabetic ketoacidosis (DKA) and severe hypoglycemia are complications of T1D and are associated with significant morbidity and mortality.Objective and hypotheses: The aim of this study was to determine the prevalence of acute metabolic complications in children with T1D admitted to the children hospital in Qazvin during 2005–2014.<p class="...

hrp0082p3-d3-724 | Diabetes (2) | ESPE2014

Prevalence of Impaired Glucose Tolerance and Insulin Resistance in a Sample of the 6- to 16-Year-Old Overweight or Obese Pediatric Population

Saffari Fatemeh , Vandaei Mahmood , Oveisi Sonia , Esmailzadehha Neda

Background: Prevalence of obesity and its complications including type 2 diabetes mellitus, impaired glucose tolerance and insulin resistance have been increased among children and adolescents during recent decades.Objective and hypotheses: The aim of this study was to determine the prevalence of impaired glucose tolerance and insulin resistance among overweight or obese children and adolescents.Method: This cross sectional study w...

hrp0084p3-965 | GH &amp; IGF | ESPE2015

Effect of Human Growth Hormone on Growth Rate of Short Stature Children with Low Birth Weight

Saffari Fatemeh , Hassani Hoda , Esmailzadehha Neda , Javadi Amir

Background: If children with intrauterine growth retardation (IUGR) are stunt after birth, they will not have the desired height. Short stature is not fatal but affects personality and social and physical development of children.Objective and hypotheses: The aim of this study was to determine the effect of human GH on growth rate of short stature children with history of low birth weight.Method: This study was conducted on 148 chil...