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...

Background: Regular and frequent red blood cell transfusions have significantly increased the life expectancy of patients with β-thalassemia major (β-TM). However, when no appropriate chelation therapy is available, patients accumulate iron in the heart, liver, spleen, pancreas, and endocrine glands, leading to progressive organ dysfunction.Objective and hypotheses: To assess the correlation between cardiac and hepatic T2*MRI findings with the ...

Background: Controversial data on ghrelin and leptin concentrations in patients with growth hormone deficiency (GHD) have been published. Little has addressed the correlation between Ghrelin and leptin with cardiac functions in patients with GHD.Aim: To investigate the effect of one year Growth hormone (GH) therapy on serum levels of ghrelin and leptin in children with GHD and to study their correlations with cardiac functions and dimensions in patients ...

Background: The French population of the SAGhE study showed an increased morbidity and mortality due to cerebrovascular disease in growth hormone (GH) treated subjects compared to the general population. Cerebrovascular health can be assessed using neuroimaging markers on MRI. One of the markers is white matter hyperintensity (WMH).Objective: To assess cerebrovascular health by scoring WMH on MRI in young adults born sma...

Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in neonates, infants, and children, and is caused by genetic mutations in pancreatic beta-cells. Current therapies are burdensome, have limited efficacy, and are associated with significant morbidity. CRN04777 is a potent, orally-bioavailable, selective SST5 agonist that suppresses insulin secretion in the terminal steps of the insulin secretion pathway and could be useful for patients with con...

Introduction: Treatment with recombinant growth hormone (rGH) is safe and has greatly improved the approach of children and adolescents with growth hormone deficiency (GHD) and other growth disorders. Some studies show that most of the height gain associated with GH treatment occurs in prepubertal years. The aim of our study was to evaluate the effect of age at start of the treatment on final height in children with isolated or GHD in a Portuguese cohort.<p class="abstext"...

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/...

Background: Several studies have described ethnic differences in HbA1c. Non-Caucasian patients have been found to have an higher HbA1c than the Caucasian ones. These differences have often been attributed to disparities in access to medical care or quality of the care.Objective and hypotheses: Differences in Hba1c among the ethnicities could be related not only to mean glycaemia. The aim of our study was to observe if, at the same level of mean glucose, ...

Introduction: Salt wasting is a potentially life-threatening condition in the newborn period. Other than 21 OH-CAH other rarer adrenal causes should be considered in the differential diagnosisObjective: To report the laboratory, clinical features, management and genotype of a series of consecutive patients who showed up at our Center for a salt wasting syndrome in the last 32 years, excluding patients with 21 OH CAH....