ESPE Abstracts

Background: Continuous glucose monitoring (CGM) systems are an emerging technology that allows frequent glucose monitoring in real time.Objective and hypotheses: To assess the value of using CGM system (Medtronic) versus oral glucose tolerance (OGT) and HbA1c in the diagnosis of glycemic abnormalities (Prediabetes) in high-risk groups.Methods: We performed OGT and monitored glucose for 72 h using CGMS combined with four to five tim...

Background: Having the onset in childhood or adolescence obesity in one third of adult people is known to progress resulting in complications. A number of studies demonstrated preservation of excessive weight in 80% of obese adolescents.Objective and Hypotheses: The work was initiated to analyze prevalence of excess body mass and obesity among children and adolescents residing in Tashkent, Uzbekistan.Method: We examined 3140 childr...

Background: Low birth weight and unfavourable intrauterine conditions are associated with long-term effects on life. The influence of intrauterine conditions on personality might be underestimated.Objective and hypotheses: In a longitudinal study we followed genetically identical twins with intra-twin birth-weight (bw) differences due to twin–twin transfusion syndrome (ttts) from birth until puberty.Method: 23 pairs of monozyg...

Aims: Comparison of perinatal outcomes and thyroid status of newborns from women with Hashimoto thyroiditis (HT) in depending on indemnification of hypothyroidism in 1st trimester of pregnancy.Methods: 43 newborns have been divided into two groups where 1st group was newborns from mothers with non-compensated HT in 1st trimester of pregnancy, n=27; 2nd group – newborns from mothers, compensated in 1st trimester, n=16. The health es...

In the light of technologic advances in prenatal testing, more genetic information about the fetus will become available, some of which may have uncertain clinical significance. In the light of all new genetic diagnosing technologies, professional guidance of patients to reliable, tailored, and accurate information is essential. In this presentation I analyze and discuss the various aspects of parental attitudes and dilemmas, as well as professional opinions about the benefits...

Background: The broad spectrum of associated diseases underlying the diverse phenotypes of patients with Turner syndrome (TS) has been extensively described. However, the underlying pathophysiological mechanisms remain unknown. Few studies have analyzed congenital and acquired diseases as a function of karyotype, and conflicting results have been obtained, calling into question the role of haploinsufficiency for genes located on the X chromosome.Objectiv...

Background: Congenital adrenal hyperplasia (CAH), due to 21-hydroxylase deficiency is one of the most common monogenic autosomal recessive disorders with an incidence of one in 15 000, and even more common in some populations. Do carriers have a survival advantage?Objective and hypotheses: The HPA axis has been reported to be more active in CYP21A2 carriers, and possibly enable a more rapid return to homeostasis. A compensatory increase in CRH s...

Background: The cytochrome P450 CYP17A1 plays a vital role in regulating adrenal androgen production. The 17,20 lyase activity of CYP17A1 is key for androgen regulation. The orteronel and galeterone are known to inhibit 17,20 lyase activity however the detailed mechanisms of the inhibition of CYP17A1 activities remain unknown. These inhibitors have been developed to treat the castration resistant prostate cancer (CRPC) but little is known about their effects on adrenal androge...

Background: Although motor performance is often impaired in patients with Turner syndrome, the exact prevalence of motor problems is unknown. Detailed studies on specific motor profiles are lacking and the exact relationship between performal IQ and motor function is unknown.Aims and objectives: 1. To describe motor performance in our population of children and adolescents with Turner syndrome including the differentiation in specific motor skill domains...

Background: Turner syndrome (TS), affects approximately 1/2500 live female births. The clinical features range from a severe phenotypic character to reduction of final height and premature ovarian failure.Objective and hypotheses: Processing of sensory information from visual, vestibular and somatokinesthetic systems is required to organize an adequate motor response aiming at gaze and posture stabilization according to the expected task and to the envir...