ESPE Abstracts

Quality of care of children living with diabetes varies widely around the world. Since discovering of insulin a hundred years ago, it’s still unavailable for a large part of children living with diabetes in developing world. According to World Health Organisation (2019), less than 13% of people living with diabetes in these countries have access to long acting insulin analogues. Thus, primary challenges of management of type I diabetes is reduction of mortality especially...

In most complex traits, susceptibility to certain risk exposures and response to clinical interventions in is under genetic control, a concept broadly termed “gene-environment interaction”. Although in animals and in plants there is evidence supporting this notion, in humans most evidence is confined to rare monogenic disorders. In complex diseases like type 2 diabetes and obesity, interactions between genetic and environmental risk factors are likely to begin very e...

Chronic kidney disease (CKD) is one of the most significant medical and socio-economic problems of our time.Purpose of the Research: To study the prevalence of chronic kidney disease in children and adolescents with type 1 diabetes in Uzbekistan.Materials and Methods: For conducting epidemiological studies there were examined children and adolescents of type 1 diabetes. Epidemiological data were st...

Background: Somavaratan, a novel long-acting rhGH fusion protein with t1/2>100 h, previously demonstrated clinically meaningful improvements in height velocity (HV) and IGF-I in prepubertal GHD children (Moore JCEM 2016).Objective and hypotheses: To evaluate maintenance of somavaratan treatment effects in the 2nd treatment year.Method: After subcutaneous pediatric doses were evaluated in a single dose PK/PD study (<e...

Background: Prenatal diagnostics (PND), as any achievement in genetic research, brings ethical and moral dilemmas that need to be a subject of reflection and debate in modern societies.Objective and hypotheses: Once the expecting parents have undergone PND, data about abnormalities confront them with moral dilemmas regarding the decision on the life or death of the unborn child, the responsibility for it, and possible suffering during its future life. Ps...

Background: In minipuberty, the male hypothalamic-pituitary-gonadal (HPG) axis is transiently activated triggering a surge in reproductive hormones causing growth of the genitalia. Longitudinal individual growth of the infant penis during minipuberty and associations to the HPG axis and IGF-I have not been thoroughly assessed.Aim: To describe the development of penile length and width as well as their relation to serum c...

Introduction: Among children with short stature, some show persistent IGF-I levels <-2.0 SDS despite a normal growth hormone (GH) response in a stimulation test. This may be caused by conditions that could benefit from recombinant human GH (rhGH) therapy (e.g. GH neurosecretory dysfunction, bioinactive GH, partial GH insensitivity). Therefore, the IGF-I generation test (IGFIGT) was implemented in 2006 using a national, standardized protocol. Children with a...

Introduction: X-linked hypophosphatemic rickets (XLHR) represents the most common form of genetic hypophosphatemia and causes rickets in children because of increased FGF23 secretion and renal phosphate wasting. Even though cranial vault an craniovertebral anomalies of potential neurosurgical interest, namely early closure of the cranial sutures and Chiari type I malformation (CM-I), have been observed in children with XLH, their actual incidence and character...

Biological systems are invariably dynamic, with both stochastic interactions and deterministic processes across multiple timescales ensuring the maintenance of homeostatic regulation and allowing us to adapt to changes in both internal and external environments. It is no surprise therefore that the stress responsive hypothalamic-pituitary-adrenal (HPA) axis shows multiple levels of regulation which come together to regulate oscillating levels of glucocorticoid secretion with b...

Genomic imprints in humans are epigenetic marks inscribed upon our genomes from the earliest stages of our development, forming a permanent memory of our parental origin. Approximately 1% of human genes are imprinted, with expression that is permanently restricted to either the paternal or the maternal DNA. Genetic or epigenetic errors of imprinting cause a range of imprinting disorders, each with distinctive effects upon growth, development, metabolism and behaviour.<...