ESPE Abstracts

Background: Growth Hormone (GH) therapy has a positive effect on many parameters including metabolic and physiologic functions as well as its effect on growth. It has also been shown that GH therapy exerts a significant effect on cardiac morphology and function as evidenced by echocardiographic findings.Aim: To investigate left and right ventricle (LV, RV) diastolic function by Tissue Doppler imaging (TDI) in pre-pubertal growth hormone deficient (GHD) c...

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: α-klotho is a transmembrane protein which can be cleaved and act as a circulating hormone. Since low α-klotho levels were found in organic GH deficiency (GHD) and high levels in acromegaly, an interaction between α-klotho, GH and linear growth has been suggested.Objective and hypotheses: We investigated the role of α-klotho protein as a reliable marker of GH secretion in short children and the factors influencing its secre...

Laron's syndrome, or Laron-type dwarfism, is an autosomal recessive disorder characterized by an insensitivity to growth hormone.There are exceptionally low levels of insulin-like growth factor (IGF-1)caused by homozygous or compound heterozygous mutation in the growth hormone receptor gene .It causes severe short stature and can be treated with injections of recombinant IGF-1. Laron syndrome is a rare disorder. About 350 people have been diagnosed with the condition world...

Donohue syndrome (also known as leprechaunism) is an extremely rare and severe autosomal recessive genetic disorder. Leprechaunism derives its name from the fact that people with the disease often have elfin features and are smaller than usual. Leprechaunism is also characterized by abnormalities of the endocrine system ; such abnormalities include hyperinsulinemia. Due to the mutation in Insulin receptor gene, infants with leprechaunism fail to use insulin effectively (insuli...

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....

Background: Almost all diabetic patients eventually develop skin complications from the long-term effects of diabetes mellitus. Cutaneous manifestations generally appear subsequent to the development of diabetes but may be the first presenting sign, or even precede the diagnosis.Objective and hypotheses: To detect the prevalence and spectrum of skin manifestations in type 1 diabetic (T1D) patients attending the Diabetes Endocrine and Metabolism Pediatric...

Introduction: There is still controversy for priming with sex steroid before GH testing.Objective and hypotheses: We studied GH response to stimulation in 92 children >9 years with idiopathic short stature (HtSDS −2). They were divided randomly into two groups. Children in group 1 (n=50) were primed with premarin in girls and testosterone in boys and those in group 2 were not primed (n=42). All children were tested using stand...

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: 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...