ESPE Abstracts

Background: β-thalassemia major (β-TM) is the most common genetically determined chronic hemolytic anemia. Studies reported that patients with β-thalassemia are zinc deficient due to increased utilization of zinc by oxidative stress, increased urinary zinc excretion and sequestration in the liver.The development of abnormal glucose tolerance in β-TM is associated with alteration in oxidant-antioxidant status. Zinc plays an essen...

Introduction: Limited, small-scale studies have revealed that men with proximal hypospadias (HS) or with other signs of undermasculinisation (i.e. complex HS) are at risk of reduced fertility and/or impaired testicular hormone synthesis. However, the extent of this phenomenon and if milder forms of isolated HS are also affected, remains unclear.Aims: To explore reproductive hormones and semen quality of young men (16-21 ...

Background: Hypospadias affects approximately 1/200 newborn males. Based on the testicular dysgenesis syndrome hypothesis, some may be suspected of having persistent testicular dysfunction later in life. Few clinical data currently support this hypothesis.Methods: Cross-sectional assessment of hypospadias cases (n = 193) and controls (n = 50), aged 16-21 years, recruited at Ghent University Hospital and...

Timely recognition and treatment of neonatal hypoglycemia are important because of the potential for adverse neurodevelopmental outcomes. One of the major problems in infants born following a pregnancy complicated by diabetes is hypoglycemia. In addition, hypoglycemia occurs in infants of non-diabetic mothers. We conducted a retrospective cohort study including all infants who had hypoglycemia during the first day of life, between 1-9-2017 and 31-8-2020. We studied the relatio...

Background: Leprechaunism (Donohue syndrome) is an extremely rare AR disease that presents with special phenotypic features including severe type of insulin resistance with high mortality in infancy.Case study: R 3 ½ months old Syrian girl, born at 35 weeks of gestation with Asymmetrical IUGR. She developed hyperglycemia from day1 of life >150 mg/dl (350+/−60 mg/dl) and her serum insulin and c-peptide were very high (772 uU/ml and 29.9 ng/...

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: Type 1 diabetes mellitus (T1DM) - related hepatopathy is not uncommon and tends to be more prevalent among children with poor glycemic control. Recent studies suggest that fatty liver disease may be more common in T1DM than previously thought.Aim: The aim of this work was to determine the frequency of hepatopathy in patients with type 1 diabetes mellitus attended diabetes clinic at Alexandria university children’s hospital (AUCH) and it&...

Background: Type 1 diabetes mellitus (T1DM) is a complex metabolic disorder typically diagnosed in childhood and characterized by insufficient insulin production. Diabetic complications are still a major concern as they constitute the main cause of morbidity and mortality in diabetic patients despite the advances in T1DM treatment. Long-term complications of diabetes include retinopathy with potential loss of vision; nephropathy leading to renal failure; peripheral neuropathy ...

Sclerosteosis is a rare autosomal recessive disorder characterized by progressive skeletal overgrowth and increased bone density. Loss of function mutations of SOST gene, coding for sclerostin, are linked to sclerosteosis. Sclerostin plays a critical role inhibiting osteoblastic activity and preventing excessive bone formation by antagonizing the Wnt signaling pathway. Sclerosteosis patients are often tall and have excessive body weight due to high skeletal weight. To...