ESPE Abstracts

Background: Autoimmune diseases have a higher incidence and prevalence among the individuals with Down syndrome (DS) compared to chromosomally normal people (increased risk for thyroid, gut and islet autoimmunity, juvenile idiopathic arthritis) These findings provide insights into a very aggressive phenotypic expression of autoimmunity in DS children.Objective and hypotheses: To investigate for the 1st time whether the association with DS might per se mo...

Background: Hashimoto’s thyroiditis (HT) is the commonest autoimmune disorder in Turner syndrome (TS). Although there are in the pediatric literature many studies on the relationships between TS and HT, only few of them have specifically investigated whether the association with TS might be able to significantly affect the evolution over time of thyroid function in children and adolescents with HT, by conditioning a different thyroid status prognosis.<p class="abstext...

Background: Consultations for infantile hypercalcaemia have increased at Sydney Children’s Hospital since guidelines for vitamin D3 supplementation during pregnancy were introduced in 2006. Recent nationwide shortages of low-calcium formula (LCF) suggest this problem may be widespread.Aim: To determine if infantile hypercalcaemia is occurring more commonly, identify potential aetiologies and clinical significance.Me...

Introduction: Previous reports support the hypothesis of an age dependent derangement of the hypothalamus–pituitary axis occurring in PWS subjects. In this context, transition years represent an important phase of growth process when somatic development reaches its completion. In the general population, GH deficiency (GHD) during the transition phase is associated with deterioration of body composition, metabolic alterations and reduced bone mineral density. PWS subjects ...

Background: Many studies have shown that GH therapy can increase final height in children born SGA. Adult height and growth velocity can be improved in these subjects even if there is not a deficiency of endogenous GH (GHD).Objective and hypotheses: We aimed to analyze growth response after 1 year of GH treatment in children born SGA without GH deficiency.Method: Ten patients (six M, four F) born SGA (according to Gagliardi et ...

Background/objective and hypotheses: Not-brain-related birth body weight (NBBW) relevance to known relationships of birth gestational age (GA) with blood serum IGF binding protein 3 (IB3) was studied in the not-life threatened newborn (NWB).Method: SEX, GA (unit:complete week), postnatal age (PNA; unit:day), birth body weight (BW; unit:g), birth head circumference (HC; unit:cm), BW<10th centile for GA (SGA), caesarean section (CS), predominant oral/e...

Background/objective and hypotheses: Parenteral nutrition (KIVD) relevance to known birth gestational age (GA) relations to the blood serum IG2/blood serum IGF binding protein 3 (IB3) ratio (IG2 through chronologically corresponding IB3, IG2/IB3) was studied in the not-life-threatened newborn (NWB).Method: SEX, GA (unit, complete week), postnatal age (PNA; unit, day), birth body weight (BW; unit, g), birth head circumference (HC; unit, cm), GA≤36 (...

Background: Severe deficiency of 11β-hydroxysteroid dehydrogenase type 2 (11βHSD2) triggers activation of mineralocorticoid receptor (MR) by cortisol and causing apparent mineralocorticoid excess (AME) syndrome characterized mostly by low-renin arterial hypertension and hypokalemia. In 2003, we studied a patient with AME (3 years-old) having two homozygous mutation, D223N (rs121917833) and a SNP C>T in intron 3 (rs376023420) (Carvajal et al. JCEM 2003).<p cla...

Background: X-linked hypophosphatemic rickets (XLH) is caused by inactivating mutations in the phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX). In this group of patients, data about renal calcifying disorders are scarce.Objective and hypotheses: To determine the prevalence of nephrocalcinosis and nephrolithiasis and their risk factors in XLH patients.Method: 36 patients (15 children a...

Background: Some IGFALS variants have been reported in more than one ALS-deficient family raising the question whether they originated from a single common ancestor allele (founder effect) or alternatively, as independent mutational events (hot spot). Since c.103dupG (p.E35Gfs*17) is located in a stretch of five consecutive guanine residues, where both G-duplication and deletion have been described in several families, we speculate that this region could be a hot spot...