ESPE Abstracts

Background: Early predictors of cardiovascular risk using anthropometric and laboratory variables available in the general practice in obese children are poorly identified.Objective and hypotheses: To identify best predictors of early cardiovascular risk in obese children between anthropometric and laboratory parameters.Method: Cardiovascular risk was determined by measuring intima-media thickness of the right common carotid artery...

Puberty is a crucial biological process normally occurring at a specific time during the lifespan, during which sexual and somatic maturation are completed, and reproductive capacity is reached. Pubertal timing is not only determined by genetics, but also by endogenous and environmental cues, including nutritional and metabolic signals. During the last decade, we have learned much regarding the essential roles of kisspeptins and the neuropeptide pathways that converge on these...

Background: Infants with severe insulin resistance syndrome show failure to thrive.Objective and hypotheses: Effect of rhIGF1 treatment on growth in a patient with severe insulin resistance syndrome.Method: Case report.Results: The patient is a 4-years-old Caucasian girl of unrelated healthy parents. She was born after a 40 weeks gestation as a small for gestational age infant with a birth weight of 1970 g. A...

Temple syndrome is due to loss of methylation in the imprinted locus 14q32 and is characterised by low birth weight, hypotonia, short stature, early puberty. Adult height is approx -2.0SD. Other features are small hands and feet, premature birth, feeding difficulties, delayed milestones, mild learning difficulty, variable obesity. We report monozygotic twins diagnosed with Temple syndrome aged 13 yr. Twin 1 received GH for SGA and short stature from age 9.5yrs when his height ...

Introduction: Congenital hyperinsulinism (CHI) is a heterogeneous group of disorders characterized by hypoglycemia and inappropriate insulin secretion. Prompt identification of CHI and its genetic causes are essential to minimize the risk of permanent neurological damage as well as guide treatment options for these patients. Although, there are 15 known monogenic forms of CHI, there remain 50% of patients without an identified genetic diagnosis, suggesting tha...

Background: At present, treatment of „classic" congenital adrenal hyperplasia (21-hydroxylase-deficiency, 21OHD) consists of glucocorticoid and mineralocorticoid replacement. However, often androgen excess and its negative metabolic impact are difficult to control without accepting glucocorticoid overtreatment, especially in adolescence. In healthy subjects oral contraceptives (containing ethinylestradiol) increase cortisol binding capacity and free c...

Brother 1: 7 years old boy, with right genu valgum and short stature (−2,11 DS); X ray shows rickets features. Plasmatic Calcium 9.3 mg/dl; phosphate 2.5 mg/dl; Alkaline phosphatasas 460 U/l; Parathyroid hormone 83 pg/ml; 25OH Vitamin D 24 ng/ml. Urine calcium 159 mg/24 h (9.2 mg/K per day); Urine phosphate 870 mg/24 h; TmP/GFR 2.6 (NV:3.8 −5.0); proteinuria 100 mg/dl.Brother 2: 4 y.o boy with frequent respiratory diseases in infant period. G...

Background: Monitoring treatment of children with classic congenital adrenal hyperplasia (CAH) is difficult and biochemical targets are not well defined.Objective and hypotheses: To analyse the urinary steroid metabolome of children with classic 21-hydroxylase deficiency (21-OHD) during treatment with hydrocortisone and fludrocortisone.Method: We retrospectively analysed 553 daily urinary steroid hormone metabolite profiles determi...

Background and aims: Existence and diagnostic procedures of neurosecretory dysfunction (NSD) are still a matter of debate. The aim of the study was to analyse prediagnostic data of short-statured children with pathologic and normal spontaneous GH-secretion and to evaluate the effect of GH-therapy in NSD-patients.Methods: Of 90 children aged 3–16 years, in whom 12-hour night profiles for GH-secretion were performed (unicentric), in 49 NSD was diagnos...

Background: The diagnostic use of IGF-1 in children suspected of GHD is based on the assumption that a single determination of this parameter reflects the integrated 24-h GH secretion. IGF-1 levels are low in GHD, but a study found a significantly lower sensitivity in children with organic lesions in the brain.Objective: The aim of this study was to check if there is a statistically significant relation between IGF-1 values in children with GHD with and ...