ESPE Abstracts

Introduction: Leri-Weill dyschondrosteosis (LWD) is caused by haploinsufficiency of the SHOX gene, located in the pseudoautosomal region (PAR 1) of the short arm of the X and Y chromosomes. The gene is expressed in highest levels in bone tissue and its product likely controls the chondrocyte apoptosis. Deletions and duplications are most frequent, point mutations are responsible for minority of the cases. The main clinical symptoms of LWD include disproportionate short stature...

Background: The term ‘disorder of sex development’ (DSD) includes congenital conditions in which development of chromosomal, gonadal or anatomic sex is atypical.Materials and methods: A retrospective analysis of the 75 medical cards of patients with DSD since 2000 up to 2017 year was done. The criterion for including patients to the database was ambiguous genitalia and/or a discrepancy between the chromosomal and gonadal/genital sex. At the tim...

Background: Generally, diabetic nephropathy onsets and progresses within 5–10 years after DM onset resulting in chronic kidney disease (CKD) causing death in every 4–5th patient with type I DM. Molecular-genetic studies of endogenous/genetic CKD risk factors are of high relevance in understanding of pathogenetic mechanisms underlying formation of nephrosclerosis, and in improvement of interventions.Objective and hypotheses: To assess renal func...

Background: Childhood onset (CO) hypogonadotrophic hypogonadism (HH), congenital or acquired after midline tumours and their treatment, is reported to have significantly poorer outcomes, in terms of adult spermatogenesis induction and duration of treatment to conception, compared with HH of post pubertal onset. A mixed cohort (youngest aged 26 years) reported median time to conception of 28 months.1 Use of hCG and FSH in adolescence is reported to result in spermato...

Background: Secretion of Wnt-proteins by adipose cells plays an important role in the control of adipogenesis. The Wnt-antagonist, dickkopf-1 (DKK-1), is secreted by human pre-adipocytes and influences adipocyte maturation and growth. DKK-1 mRNA increases 6 h after onset of human adipogenesis followed by an increase in DKK-1 protein. Of note, DKK-1 protein has been implicated also in bone remodeling pathways.Patients and Methods: In this study we measure...

Backgrounds: The prevalence of congenital malformations (CM) is higher in infants referred with capillary (c) TSH elevation on newborn screening. However, establishing the prevalence of CM ± dysmorphic syndromes in true congenital hypothyroidism (CH) requires careful distinction between true and transient CH.Objective: To determine the prevalence of CM ± dysmorphic syndromes in all infants referred with TSH elevation on newborn screening in Sco...

Introduction: Small-for-gestionational-age newborns (SGA-NB) may present subsequent comorbidities affecting their metabolism, growth, and development. Analysis of changes in serum proteome profile expression in SGA-NB may provide physiopathological information and help to identify postnatal biomarkers.Aim: To compare serum proteome profiles in SGA vs AGA newborns, stratified by gestational age.Study population and method: The study...

Objective and hypotheses: The work was initiated to assess functional condition of the kidneys and to study interrelation between ACE gene I/D polymorphism and stage of chronic kidney disease in children and adolescents with type 1 diabetes mellitus (DM) in compliance with K/DOQI recommendations (2002).Method: We examined 120 children and adolescents with type 1 DM, 53 (44.2%) males and 67 (55.8%) females among them (mean age 13.8±0.24 years. GFR wa...

Background: The deterioration caused DMtipo1 anthropometric and pubertal development. With intensive treatment, improved HbA1c and less microvascular complications should be similar to normal population.Objective: To study the pubertal development in our population with DM1 and final somatometric variables reached in relation to the normal population.Material and methods: Retrospective study of DM1A debut from diagnosis to final he...

Background: Small-for-gestational-age (SGA) newborn infants (NB) may present long-term comorbidities influencing their metabolism, growth and/or development. Although their serum proteome is unknown, altered expression of the proteome profile may provide information on their physiopathology and lead to the discovery of biomarkers for postnatal complications.Aim: To detect changes in the serum proteome in SGA-NB vs adequate-for-gestational-age (AGA) newbo...