ESPE Abstracts

The ongoing European LIFE-MILCH project (www.lifemilch.eu), focuses on detecting Endocrine Disrupting Chemicals in mothers, in breast and formula milk and in urine of mothers and infants up to 12 months of age studying relationships with neurodevelopment, growth, distribution of adiposity, pubertal stages, and ano-genital distance (AGD) to establish a risk assessment model to prepare safety guidelines. In this study we evaluated the effects of maternal diet during and after pr...

Background: Growth hormone plays a primary role in stimulating postnatal growth by way of insulin-like growth factor 1 (IGF1) which is produced in the liver in response to GH. A deficiency of GH arrests maturation during childhood, and the stature of such subjects is generally much shorter than the average stature. However, some cases of GH deficiency attain normal stature as adults.Case presentation: A 20 years old man was referred for a further evaluat...

Background: Neonatal diabetes (ND) is a rare monogenic form of diabetes presenting within the first six months of life. The most frequent causes include mutations in KCNJ11, ABCC8 and insulin genes, but up to 40% of patients remain without a molecular genetic diagnosis.Case presentation: Case 1: a female newborn of non-consanguineous parents, born at 35 weeks, SGA. She presented with hyperglycemia at second day of life...

Background: Children with more than one AID (pediatric polyautoimmunity) may have a stronger genetic component than children with a single AID. PTPN22 C1858T SNP has been associated with multiple different AIDs in adults and children.Objective and hypotheses: Evaluate the association of PTPN22 C1858T gene polymorphism with pediatric polyautoimmunity.Method: A cross-sectional study was performed in subjects with an AID of p...

Background: Low birth weight (LBW) followed by a rapid postnatal catch-up in weight predisposes individuals to a central distribution of body fat, which is reverted by metformin. Growth-and-differentiation-factor-15 (GDF15) plays an important role in the regulation of energy homeostasis, reducing food intake and lowering body weight. We aimed to assess whether GDF15 concentrations are raised by long-term metformin treatment in LBW/catch-up girls with precociou...

Background: Growth-and-differentiation factor-15 (GDF15) is a regulator of energy homeostasis, and is used as biomarker of several pathological states.Objectives: To assess longitudinally GDF15 concentrations in a cohort of infants born either appropriate- (AGA, n=70) or small-for-gestational-age (SGA, n=33), the latter known to be at increased risk for central adiposity and metabolic alteration...

Background: Studies aimed at elucidating the pathophysiology of obesity consistently describe it as a highly heterogeneous disorder at both clinical and molecular level. Despite rare monogenic forms and several regions of susceptibility have been defined, the genetic causes underlying the disease remain largely unknown.Objective and hypotheses: We aimed to identify novel genetic abnormalities in a cohort of Spanish children with severe non-syndromic earl...

Background: In rodents, fibroblast growth factor 21 (FGF21), an endocrine member of the FGF family, is mainly produced in the liver and promotes glucose oxidation in several tissues; the circulating concentrations of FGF21 rise shortly after birth. In the human, the ontogeny of circulating FGF21 is essentially unknown.Objective and hypotheses: To assess whether there is also a neonatal surge of circulating FGF21 concen...

Background: Vitamin-D-dependent rickets 1A (VDDR-1A) is a extremely rare, autosomic recessive genetic form of rickets caused by a defect in vitamin D 1α-hydroxylase enzyme which leads to low levels of 1,25-(OH) vitamin D.Herein, we report two Moroccan sisters R.E. and N.E. (respectively 3 and 15 months old), born from consanguineous parents, who presented with psychomotor retardation and failure to thrive.<str...

The majority of treated obese children fail the goals set in the medium-long term or do not show themselves up at the short term follow up. These results, which do not improve even with the proliferation of facilities aimed to the treatment of obesity and of its complications, pose serious questions on how to make the best use of scarce resources available by the National health system. We have visited, between 2013 and 2015, 378 seriously obese children (>2 DS from nation...