hrp0094p2-152 | Diabetes and insulin | ESPE2021

Timing of Consulting Paediatric Endocrinologist or Diabetologist During the Management of Acute DKA; Response of Bahraini, Iraqi, and Saudi Paediatric Residents

Alsaffar Hussain , Hadi Wasnaa , Ali Khadija , Fuad Ali Maryam , Attia Najya ,

Introduction: Diabetic ketoacidosis (DKA) is a known complication of diabetes mellitus, mainly type1. It is a medical emergency condition. The recent British paediatric DKA guideline clearly recommends involving a senior clinician at time of diagnosis, usually either an emergency medicine or general paediatric doctor. There is no clear recommendation of when to consult the on-call paediatric endocrinologist or diabetologist who covers the admission of diabetic...

hrp0089p2-p239 | Growth & Syndromes P2 | ESPE2018

Heart and Aorta Anomalies in Turner Syndrome and Relation with Karyotype

Kardelen Aslı Derya , Darendeliler Feyza , Gencay Genco , İnce Zuhal , Aliyev Behruz , Ozturan Esin Karakılıc , Abalı Zehra Yavaş , Poyrazoğlu Şukran , Nişli Kemal , Baş Firdevs

Introduction: Turner Syndrome (TS) is known to be associated with a high risk of cardiac anomalies and cardiovascular diseases. Detailed cardiac evaluation at diagnosis and serial evaluation for dissection is warranted.Aim: This study aimed to evaluate TS patients for cardiac pathology using MRI.Methods: Clinical findings, karyotypes, echocardiogram results, cardiac MRI findings of 33 patients with TS were evaluated. Measurements o...

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-p032 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

A Novel Homozygous Mutation in the CASR Gene in a Neonate with Severe Primary Hyperparathyroidism; A Case Report

Alqadi Ali , Raboei Enaam , Ghafouri Abdullah , Alguthami Albandari , Alghanmi Razan

Background: Neonatal severe primary hyperparathyroidism (NSHPT, MIM 23900) is a potentially lethal autosomal recessive disorder characterized by severe hypercalcemia, markedly elevated serum PTH levels and skeletal abnormalities that include multiple fractures, demineralization and erosions. It is secondary to biallelic loss of function mutation in the CASR gene that encodes the calcium sensing receptor.Case presentation: We identified a 10-day old baby ...

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...

hrp0089p2-p275 | Growth & Syndromes P2 | ESPE2018

Growth of Infants Born by Intracytoplasmic Sperm Injection (ICSI) Technique

Eldakrouri Ahmed Farouk , Ali Hamdy Alsayed , Alrifai Hilal , Soliman Ashraf

Due to recent scientific progress in assisted reproductive techniques (ART), infertile couples can now become fertile. Thus, a number of infants in our country are the results of these costly interventions. This study has been undertaken to evaluate the physical growth of ART infants using standard growth charts from birth until 18 months of age.Methods: We measured the anthropometric data of 100 infants newborns conceived through ART intracytoplasmic sp...

hrp0089p3-p350 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

5-Alpha Reductase Type 2 Deficiency among Iranian Patients with Ambiguous Genitalia

Rabbani Bahareh , Mahdieh Nejat , Rabbani Ali , Dalili Setila

5-alpha reductase converts testosterone to dihydrotestostrone. SRD5A2 mutation leading to deficiency of 5-alpha reductase causes a disorder of 46,XY sex development named 5-alpha reductase type 2 deficiency. Due to deficit of this enzyme, female external genitalia is common sign of disease in 46,XY individuals. SRD5A2 mutations have been reported in different ethnicities. Here, mutations of this gene are reported in Iranian subjects. Affected individuals were subjected to stud...

hrp0086p2-p86 | Adrenal P2 | ESPE2016

Congenital Adrenal Hyperplasia Revealed by Adrenal Nodules

El Mahdi Haddam Ali , Soumeya Fedala Nora , Meskine Djamila

Background: Congenital adrenal hyperplasia (CAH) is a pathology with a genetic deficiency of one of the enzymes of steroidogenesis. It is due to 21 –Ohase deficiency in 90–95% of cases. The complete deficiency of this enzyme is responsible for the classic form (sexual ambiguity at birth with or without salt loss). While the partial deficiency results in a polymorphic clinical presentation occurring in childhood or adolescence. In rare neglected cases, the diagnosis i...

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="...

hrp0086p2-p578 | Perinatal Endocrinology P2 | ESPE2016

Primary Hyperparathyroidism in Children and Adolescents: About a Series of Ten Patients

Fedala Nora Soumeya , Haddam Ali El Mahdi , Meskine Djamila

Background: Primary hyperparathyroidism (PHPT) in children and adolescents is rare. Sporadic forms are more frequent and correspond, usually, with an adenoma (73%). Most rare familial forms (7%) are related to hyperplasia. They may be isolated or integrate with multiple endocrine neoplasia (MEN). The PHPT is revealed mostly by chronic bone pain increased by pressure, walking and exercise, arthralgia, growth failure and nonspecific late deformities.Object...