ESPE Abstracts

Background: Diabetic nephropathy is a major microvascular complication of diabetes. It affects 25–35% of diabetic patients diagnosed under the age of 30 years. It is the leading cause of premature death in young diabetic patients.Objective and hypotheses: This study was primary designed to assess the short-term effect (6 months) of allopurinol treatment compared to angiotensin-converting enzyme inhibitor (ACEI) and placebo in type 1 diabetic patient...

Background: Anti-Mullerian hormone (AMH) is produced by Sertoli cells and signals through two transmembrane receptors (AMHR), specific type II and type I, leading to regression of Mullerian ducts (uterus and fallobian tubes) during fetal male sex differentiation. Mutations of AMH and AMHR-II genes lead to persistence of Mullerian ducts in males. These conditions are transmitted in a recessive autosomal pattern and are symptomatic in 46,XY phenotypic males.<p class="abstext...

Background: Vitamin D deficiency may be associated with increased risk of metabolic syndrome.Objective and hypotheses: We aimed to assess the relation between 25-hydroxyvitamin D (25(OH) D) with the different metabolic syndrome components in overweight and obese subjects.Method: Ninety eight subjects (≥85th percentile for age and sex) recruited from the Diabetes, Endocrine & Metabolic Paediatrics Unit (DEMPU), Cairo Unive...

Background: Thiamine-responsive megaloblastic anemia syndrome (TRMA) is characterized by a triad of megaloblastic anemia, progressive sensorineural hearing loss, and diabetes mellitus (DM). It is due to an inherited mutation in SLC19A2 gene, encoding a high-affinity thiamine transporter 1 in charge of facilitating the uptake of thiamine by the cells. Other manifestations including optic atrophy and stroke are rarely reported. We herein report an extremely rare...

Endocrine complications are common among children who have finished their cancer treatment. Approximately half of those children will experience at least one hormonal disorder. The risk of endocrine deficiency is related to the child's gender and age, tumor location and therapies used (surgery, chemotherapy or radiation therapy).Aim of the study: To address the main endocrine abnormalities following cancer therapies that occurs late...

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...