ESPE Abstracts

Background: Patients with Klinefelter syndrome (SK) have a 47, XXY karyotype and tall stature as a result of overexpression of the SHOX gene. The case of a patient with peculiar phenotype, microcephaly, proportional short stature and 47, XXY karyotype with a deletion in band p11.3 of one X chromosome is presented.Clinical description: A 2-year, 4 month-old boy was referred for study of growth retardation. The product of a first gestation of 39 weeks of h...

Background: Autoimmune thyroid diseases are multifactorial diseases with a genetic susceptibility and environmental factors. A potential role of cytotoxic T-lymphocyte-associated protein 4 (CTLA4) gene, Fc receptor-like 3 (FCRL3) gene, Fas apoptotic inhibitory molecule 2 (FAIM2) gene polymorphisms on autoimmune thyroid diseases (AITDs) in children has not been established equivocally yet.Objective and hypotheses: To estimate the association of polymorphi...

Background: In this study we investigated mortality in children with monogenic diabetes.Methods: Within the Ukrainian Pediatric Diabetes Register (UPDR) the number of children with type 1 diabetes mellitus (DM1) 0-17 y.o. in 2019 was 9860 (1 in 769), with DM2 - 36 (1 in 210,547) with neonatal DM (NDM) - 66 (1 in 115,000), with MODY - 40 cases (1 in 114,844). We used targeted next generation sequencing (tNGS) of all known...

Objective: to assess diagnostic usefulness and accuracy of different tools in patients with Kallmann syndrome and ichthyosis due to X-chromosome microdeletion.Materials: сongenital hypogonadotropic hypogonadism due to KAL1 pathological variants manifest with micropenis, cryptorchidism, delay of puberty, and not associated with disorder of sex development. This condition can be associated with ichthyosis due to deletion of X chromosome region with genes KAL...

Introduction: Vitamin D may be considered as a hormone of prohormone of pleiotropic effects. Seasonal variability of insolation affects its synthesis in humans. In our latitude, vitamin D deficiency is widespread. In 2018, updated recommendations for vitamin D supplementation were published in Poland by Rusi&nacute;ska et al. In 2020, SARS-CoV-2 pandemic lockdown was introduced, with suggestions of protective anti-viral vitamin D role.<p class="ab...

Background: 5-α-reductase type 2 enzyme catalyzes the conversion of testosterone into dihydrotestosterone, a potent androgen responsible for male sexual development during the fetal period. From 2017 to 2019, a homozygous hg38_chr2:31529414 C>T variant in SRD5A2 gene have been identified in 3 unrelated patients with DSD 46,XY of Buryat origin. The variant has been previously reported in one patient from China (Song et al, 2019) and l...

Background: The aim of the study was to describe the incidence and prevalence trends of diabetes mellitus (DM) type 1 in children of different age groups in Ukraine during 2002–2012.Objective and hypotheses: Ukraine has a 25 districts, with a population of 45 553 000, including 7 971 638 children.Method: We analyzed data based on a clinical diagnosis in child population aged 0–17 years old centrally from all regions of Uk...

Background and Aims: The incidence and prevalence of childhood type 1 diabetes (T1D) increases all over the world. The disease is often combined with other autoimmune lesions. The most common is autoimmune thyroid diseases. The combination of several autoimmune diseases significantly worsens diabetes control in children with T1D. The aim of the study: to identify risk factors of autoimmune thyroid diseases in children with T1D based on the study of the feature...

Background: Iodine deficiency has multiple adverse effects in humans, termed iodine deficiency disorders, due to inadequate thyroid hormone production. Iodine deficiency during pregnancy and infancy may impair growth and neurodevelopment of the off-spring and increase infant mortality.Objectives: To evaluate effects of iodine supplementation in pregnant, lactating women and their infants at the East of Ukraine.Methods: Target group...

Aim: To evaluate the metabolic status in children with Turner syndrome (TS) depending on the Tanner stage (Pre-puberty and puberty).Methods: The total studied group consisted of 85 children with TS from 8 to 17 years, who were regularly followed-up in the University hospital (Minsk) and age matched 72 healthy controls. TS was diagnosed in patients with characteristic phenotypic signs according to the results of karyotypi...