ESPE Abstracts

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"...

Background: Type 1 diabetes (T1D) is a T cell-mediated autoimmune disease. A more complex immunological picture is being unraveled, with a key role of innate immune cells at disease onset and maintenance. For new therapies based on immune-modulation to be possible, immune characterization of T1D patients is crucial.Objective and hypotheses: We aimed to characterise innate and adaptive immune cells of T1D children at a well-defined ‘onset-window&#146...

Beckwith-Wiedemann Syndrome (BWS) is an overgrowth disorder, occurring in 1/13,700 births. BWS is usually sporadic, but 15% of cases are familial. Variable phenotype may include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycemia, lateralized overgrowth and predisposition to embryonal tumors. We describe three male cases of BWS followed at our clinic.Case 1: Born of a gestation complicated by gestational diabetes. Del...

Hypophosphatasia is a rare disease caused by mutations in the gene encoding tissue- nonspecific isoenzyme of alkaline phosphatase. Duplications of the ALPL gene account for fewer than 1% of the mutations causing HPP. It has been shown that asfotase alfa treatment mineralizes the skeleton and improves respiratory function and survival in severe forms of hypophosphatasia.The newborn was evaluated for respiratory failure and generalized hypoton...

Background: Pediatric Cushings syndrome is a rare condition and its diagnosis is always a challenge to the clinicians. The hypercortisolism can be classified as ACTH-dependent (Cushings disease) and ACTH-independent. The latter group comprises several hereditary conditions. One of them is primary pigmented nodular adrenocortical disease (PPNAD) which occurs isolated or as part of Carney complex (CNC). It is known that adult patients with Cushings syndrome due PPNAD exhibited a...

Background: Cystic fibrosis is associated with abnormal lipid metabolism and this anormality is commonly characterized by low cholesterol and hypertriglyceridemia. The increasing in life expectancy of cystic fibrosis patients has enhancing the interest for prevent the risk factors for cardiovascular diseases like dyslipidemias.Objective and hypotheses: Determine whether concentrations of cholesterol and triacylglycerol are related to nutritional status a...

Background: Turner syndrome (TS) patients typically exhibit short stature and gonadal dysgenesis with pubertal delay and infertility. Up to 30% of these girls will have spontaneous pubertal development, however only 2% achieve a spontaneous pregnancy. Biochemical markers reflecting the ovarian reserve in girls and adolescents with TS are therefore needed.Objective and hypotheses: Evaluation of the ovarian reserve in girls and adolescents with TS using se...

Background: C-peptide secretion is the most accurate measurement of residual β-cell function in type 1 diabetes (T1D) and even residual levels seem to positively correlate with a lower probability of complications.Objective and hypotheses: Identify key determinants to the evolution of the β pancreatic cell function, measured by fasting C-peptide (FCP).Method: Prospective study of patients diagnosed with T1D, with evaluati...

Background: Obesity in adolescence represents a major health problem of our century owing to its epidemic proportions and the associated morbidity and mortality in adult life. In Greece, 41% of adolescents are overweight or obese.Aim: The aim of our study was to investigate the effectiveness of a comprehensive, multidisciplinary, personalized management plan at reducing the prevalence of overweight and obesity in adolesc...

Background: Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder with more than 90% of cases caused by defects in the steroid-21 hydroxylase (CYP21A2) gene. Such defects are the main cause of 21-hydroxylase enzyme deficiency that affects the biosynthesis of cortisol and aldosterone. The CYP21A2 gene is part of the RCCX module, which is located on chromosome 6p21.3, in the major histocompatibility complex (MHC) class III reg...