ESPE Abstracts

Background: Angiotensin converting enzyme (ACE) is a possible candidate gene that may influence both body fatness and blood pressure. Although several genetic studies have been conducted in adults, relatively few studies have examined the contribution of ACE candidate genes for development of the obesity-hypertension phenotype early in life.Aim: To screen Egyptian obese children and adolescents for insertion/deletion (I/D) polymorphism in the gene encodi...

Background: We describe our experience in medical therapy for invasive somatotroph pituitary macroadenomas in 8 children or adolescents presenting with acromegaly/gigantism, in terms of growth and IGF-I levels control.Patients: Eight children, aged 5 to 17 years (median 12.4 years), presented with growth hormone (GH) hypersecretion related to somatotroph pituitary macroadenomas with cavernous sinus invasion in 6/8. Genetic testing revealed AIP mutation i...

Background: The human growth pattern varies from intrauterine to extrauterine life, with the GH-IGF axis being immature at birth and IGF-I assuming an important role in promoting postnatal growth. The actions of IGF-I are modulated by its interactions with IGFBPs, with this interaction being regulated by pappalysins (PAPP-A, PAPP-A2) and stanniocalcins (STC-1, STC-2), and thus modifying the amount of free IGF-I.Objective:</strong...

Accumulating evidence indicates various interactions between the GH-IGF1 axis and the immune system in infants and children during undernutrition.Objectives and Methods: We performed electronic literature systematic review using PubMed, Google Scholar, and Web of Sciences with the aim to provide an update on the link between the GH-IGF1 axis and the immune system in infants and children during malnutrition. We reviewed 22 studies (2007-2...

The extent and quality of parental care that children receive greatly influences their development, impacting their physical and psychological growth, their educational and social achievement, and their disease risk as both children and adults. It is thus remarkable that around 25% of children are physically abused worldwide. Parenting is a complex behavior, and we still know little about the causes and mechanisms by which people differ in their parental behaviors. To learn mo...

Background: Laron syndrome (LS), (OMIM#262500) is a rare recessively inherited disease caused by deletions or mutations of the GH receptor, and is characterized by low or undetectable serum IGF-I. This deficiency leads to a series of metabolic abnormalities including of the proteins.Subjects & Method: This study presents for the first time the amino-acid analysis of two untreated and one IGF-I treated LS patients using the LC-MS/MS method (Waters TQS...

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...