ESPE Abstracts

Background: The detection of hyperglycemia on occasional evaluation raises the diagnosis of diabetes mellitus (DM). Maturity onset diabetes of the young (MODY), namely glucokinase deficiency, should be considered in cases of non-progressive hyperglycemia associated with a positive family history.Objective and hypotheses: We describe two unrelated cases of asymptomatic hyperglycemia where glucokinase mutations were detected.Method: ...

Background: The central precocious puberty (CPP) diagnosis is usually based on clinical evaluation but in its soon phase this evaluation is difficult so laboratory confirmation is crucial.Objective and hypotheses: To evaluated the usefulness of the Leuprolide stimulation test as a diagnostic method of idiopathic CPP.Method: Sixty-one girls, aged 5–8 years, were evaluated retrospectivaly for premature breast development. Girls ...

Background: GH treatment requires regular, daily s.c. injections for very long periods of time when not virtually for a lifelong period. The mean final height attained with GH therapy is influenced by poor adherence to treatment.Objective and hypotheses: The main aim of this study was to identify non-adherent patients to GH therapy and to determine the influence of compliance in response to the treatment (IGF1 serum levels and growth velocity). We also e...

Background: 17α-Hydroxylase/17,20-lyase deficiency is a rare form of congenital adrenal hyperplasia caused by mutations in CYP17A1, characterized by reduction of androgens, estrogens and cortisol production and mineralocorticoid excess.Objective and hypotheses: To describe the clinical and molecular characteristics of two sisters with 17α-hydroxylase/17, 20-lyase deficiency.Method: Two sisters, phenotypic females...

Background: Genetic and epigenetic alterations at the GNAS locus are responsible for the Gsα protein dysfunctions causing Pseudohypoparathyroidism (PHP), a heterogeneous disease characterized by multiple hormone resistances and AHO signs (short stature, obesity, round face, brachydactyly, subcutaneous ossifications and mental retardation). A clinical overlap among molecular subtypes of the disease (Ia, Ib, Ic and II) makes the current classification inadequate; furthermor...

Background: Prenatal growth restraint associates with risk for later diabetes particularly if such restraint is followed by postnatal formula-feeding (FOF) rather than breast-feeding (BRF). Circulating incretins can influence the neonatal programming of hypothalamic setpoints for appetite and energy expenditure, and are thus candidate mediators of the long-term effects exerted by early nutrition.Objective, hypotheses and method: We have tested this conce...

Background: The correlation between obesity and depression is well established. Tryptophan (Trp) is an essential amino acid that acts as substrate for serotonin and melatonin biosynthesis, both know to play a role in satiety, anxiety, and depression. Furthermore, low plasma Trp levels have been associated with obesity.Objective: To investigate the effects of Trp supplementation as a conjunctive therapy to conventional life-style intervention on weight lo...

Background: Infants born small-for-gestational age (SGA) who develop postnatal weight catch-up are at risk for insulin resistance, central adiposity and cardiovascular disease in later life, even in the absence of overweight.Objective and hypotheses: In young (age 3–6 years) non-obese SGA children, we assessed arterial health by intima-media thickness (IMT) and abdominal fat distribution (subcutaneous, visceral, pre-peritoneal and hepatic components...

Background: Hyperinsulinemic androgen excess is the most common cause of hirsutism, acne, seborrhea and menstrual irregularity in adolescent girls. The ovarian androgen excess originates most often from an absolute or relative excess of fat (in adipose tissue and in organs such as the liver) and from the ensuing elevations in insulinaemia and gonadotropin secretion. There is no approved therapy for androgen excess in adolescent girls. The prime recommendation is to reduce body...

Background: The management of type 1 diabetes is complex, requires a multidisciplinary team and knowledge of the possible advantages of new technologies such as insulin bolus calculators.Aims and objectives: To assess if the use of an automated bolus calculator glucometer Accu-Check Aviva Expert® improves the diabetes control in paediatric patients in multiple daily injections (MDI). To identify which patients benefit most from its use.<p class=...