hrp0095p1-12 | Adrenals and HPA Axis | ESPE2022

Novel Homozygous Mutation in a Boy with Pseudohypoaldosteronism Type 1

Saffari Fatemeh , Homaei Ali

Pseudohypodosteronism type 1 (PHA-1) is an inherited disease caused by the resistance of peripheral tissues to aldosterone, leading to severe salt loss in infants. This rare disease is caused by mutations in the amiloride-sensitive epithelial sodium channel subunits (ENaCs). Loss-of-function mutations in ENaCs lead to PHA-1, which is associated with neonatal salt wasting. PHA1 can be transmitted as autosomal dominant and recessive forms. Patients with the autosomal dominant fo...

hrp0094p2-433 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Novel mutation in an iranian family with 17-β hydroxysteroid dehydrogenase type 3 deficiency

Saffari Fatemeh , Homaei Ali

We report a large family with several cases of 46 XY and a new mutation in the 17-β-HSD3 gene.The proposita was an 11-year-old girl and the first child of a consanguineous family. She was born by cesarean section with a height of 52 cm and a weight of 4200 grams. The external genitalia were completely female and had a short vaginal pouch. She had palpable gonads in her inguinal area and underwent bilateral gonadectomy at the age of two. Other physical examinations were n...

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="...