ESPE Abstracts

Background: Obesity is one of the major risk factor for metabolic and cardiovascular disorders, and its global prevalence has increased exponentially in the last decades. Excessive weight gained during early childhood increases long-term risk; however, reversing this condition during early-life reduces risk, improving children’s quality of life.Objective and hypotheses: We hypothesized that a lifestyle intervention in obese prepubertal children woul...

Background: Recent studies have revealed the presence of zinc and the expression of zinc transporter (ZnT) family members in most endocrine cell types. It has been demonstrated that the ZnT family plays an important role in the synthesis and secretion of different hormones. Furthermore, ZnT8Ab (zinc transporter-8 autoantibodies) together with GADAb (glutamic acid decarboxylase antibodies), IAA (insulin autoantibodies) and IA-2Ab (islet antigen-2 antibodies) are markers of auto...

Background: IGF1R gene mutations have been associated with varying degrees of intrauterine and postnatal growth retardation, and microcephaly. We have previously reported three novel variants in the IGF1R gene: de novo p.Arg1256Ser, de novo p.Asn359Tyr and p.Tyr865Cys (ENDO 2013, OR20-2).Aim: To characterize the functional effects of the novel IGF1R gene allelic variants.Methods: In ...

Background: Nutrition and growth in the postnatal phase seems to have an important role for the future risk of obesity, type 2 diabetes, and cardiovascular diseases. It has been suggested that circulating levels of adiponectin in the first 2 years of life are influenced by type of feeding in small for gestational age.Objective and hypotheses: Aim of our study was to evaluate if total and multimeric adiponectin levels in obese adequate for gestational age...

Background: Prader–Willi syndrome (PWS) is a relatively common multisystem disorder with a prevalence estimated in several studies to be in a range of one in 10 000–30 000 individuals.Objective and hypotheses: For the first time to our knowledge, we describe the case of a couple of twin, naturally conceived, monochorionic diamniotic, both affected by PWS.Method: The gravida 3 para 1 mother was 43, and the father 40, at th...

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...