ESPE Abstracts

The benefits of surgical repair on long term growth in children with tetralogy of Fallot (TOF) have been variable. Surgery undertaken beyond infancy has often been associated with a residual degree of growth impairment. Primary repair of during early infancy was adopted in many centres, if clinically indicated. We examined the effects of full early surgical correction of TOF on linear growth for 2 years postoperatively. Anthropometric data of infants with TOF before and after ...

The arterial switch operation (ASO) represents a remarkable success in the treatment of cyanotic congenital heart disease, with survival rates approaching 100%. The effect of infantile deep hypothermic circulatory arrest and hypoxia on post-operative linear growth is not studied. Growth data were recorded and analyzed in 12 infants with d-TGA who underwent switch operation (anatomical correction) in the early neonatal period for 18 months.Results...

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 ...

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 ...

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...

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...

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...

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...

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="...

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...