ESPE Abstracts

Background: Disorders of sex development (DSD) are congenital conditions in which chromosomal, and gonadal or anatomical sex is atypical.Objective and hypotheses: We describe the case of a 46,XX newborn with ambiguous genitalia. 46,XX DSD set in differential diagnosis disorders of gonadal development (ovotesticular DSD, testicular DSD, gonadal dysgenesis), androgen excess of fetal (mainly congenital adrenal hyperplasia due to deficiency of 21-hydroxylase...

Introduction: The circadian rhythmicity of the hypothalamic–pituitary–adrenal (HPA) axis depends on the synchronization of the clock molecular systems in the suprachiasmatic nucleus and in the adrenals. When and how this process occurs in the adrenal is unknown.Objective: To assess the ontogeny of daily variation of the expression of the adrenal clock genes (Clock, Arntl, Per1, Per2, Per3, Cry1, Cry2, Rora, and Nr1d1), steroid...

Background: Poor linear growth is still one of the main concerns in children with congenital adrenal hyperplasia (CAH). An impairment of linear growth, adversely affecting final height, has been related both to overtreatment with glucocorticoid replacement therapy and to poor control of adrenal androgen levels.Objective and hypotheses: To define factors that influence linear growth and final height in patients with classical CAH.Me...

Introduction: Use of continuous glucose monitoring (CGM) as a diagnostic tool for cystic fibrosis-related diabetes (CFRD) is receiving increasing attention. We aimed to: i) describe the glucose profile by CGM in CF patients >10 years of age; ii) compare CGM and oral glucose tolerance test (OGTT) results; and iii) evaluate lung function and nutritional status changes over the previous year.Methods: Prospective study of CF patients aged ≥10 years...

Background: X-Linked Adrenoleucodystrophy (X-ALD) is a rare neurodegenerative disorder characterised by impaired peroxisomal beta-oxidation of very long chain fatty acids (VLCFA; ≧C22) which is reduced to about 30% of control levels. Consequently, there is an accumulation of VLCFA in plasma and tissues, including the white matter of the brain, the spinal cord and adrenal cortex. It is caused by mutation in the ABCD1 gene encoding a peroxisomal transmembrane protein (ALD...

Background: Several studies have examined the relationship between type 1 diabetes and bone mass, which reported contradictory data on BMD, bone remodelling markers and bone quality. Nevertheless an incresead prevalence of osteopenia was observed among patients with duration of disease of >6 years.Objective and hypotheses: The aim of the study was to investigate the potential negative impact of type 1 diabetes on bone status in a group of children wi...

Background: Lipid assessment is emerging as a useful and easy detectable tool to define the overall cardiovascular risk in children and adolescents. Nevertheless, no all dyslipidemic patients suffer the same cardiometabolic consequences.Objective and hypotheses: To compare anthropometric, biochemical and blood pressure variables among dyslipidemic children and adolescents according to the presence of metabolic syndrome (MetS).Metho...

Background: Response to rhGH treatment is extremely variable in pediatric growth disorders; predictors of the response are not yet clearly determined, due to disomogeneity of studied cohorts.Aims and objectives: To investigate the correlation between clinical parameters and height gain after the 1st year of rhGH treatment and at the last visit in eight different aetiologies of short stature, with the aim of identifying predictors of response to rhGH trea...

Background: Vaptans, vasopressin receptor 2 antagonist, are used in adults to treat hyponatremia associated with congestive heart failure, cirrhosis, and the syndrome of inappropriate antidiuretic hormone (SIADH). To date, in paediatric patients with SIADH there are few data about use of vaptans, still considered off-label.Case presentation 1: A 9-yo female with surgically treated suprasellar astrocitoma developed chronic hyponatremia (121–128 mmol/...

Background: Mild TSH elevations are frequently observed in obese patients, in the absence of any detectable thyroid disease.Aims and objective: To evaluate possible causes for the raised TSH levels and to verify possible biochemical and clinical consequences of this condition.Methods: We evaluated 779 (325 males/454 females) obese children, chronological age 14.38±2.56 (range 5.25 to 18.50), height SDS 0.27±1.04 (range &#...