ESPE Abstracts

Background: The prevalence of congenital adrenal hyperplasia (CAH) in European countries is reported as 1:10–15 000. It depends on the quality of its diagnostics and efficacy of neonatal screening (NS). In Ukraine the NS was started in 2012.Objective and hypotheses: This is the first study of CAH epidemiology in children 0–18-year-old in Ukraine.Method: In 2013 it was created a database (DB) of Ukrainian children with CAH...

Background: Mixed gonadal dysgenesis (MGD) is a DSD with variations of 45,X/46,XY caryotype and different phenotype.Objective and hypotheses: To describe the features of six patients (three raised as boys and three as girls).Method: The mean patients’ age at the time of the report is 11.7±4.0 years old. Molecular diagnosis was made in utero and confirmed after birth in two boys (for maternal age and because one mother had...

Background: Turner syndrome (TS) is the most well-known and common chromosomal disorder accompanied by delayed growth. According to the Ukrainian national register (UNR) of children with dwarfism the growth retardation is common for all girls with TS.Objective and hypotheses: The aim of the study was to determine the growth parameters of TS girls different age and karyotype, before GH treatment.Method: According to the UNR it was p...

Background: Turner syndrome (TS) is one of the most common genetic disorders associated with abnormalities of chromosome X that occurs in different populations with a frequency of 25–210 per 100 000 female live births.Objective and hypotheses:: The aim of this study was to investigate the prevalence of TS in ukrainian children, as well as frequency variations of karyotype and age of primary diagnosis of TS.Method: We analysed ...

Background and Aims: Disorders of sex development (DSD) are a group of rare congenital conditions. Clinical management of patients with DSD is often difficult and requires multidisciplinary approach.Material and methods: Twenty-eight patients aged 1 to 18 years with different forms of 46, XY DSD were included. The subjects have undergone a clinical examination, karyotype analysis followed by the next generation sequencing (NGS) using MiS...

Background: The pathophysiological link between the stress axis and mental health disorders is well established. However, the impact of inborn errors of steroidogenesis on the brain remains elusive. We analysed the brain transcriptome of adult zebrafish with impaired steroidogenesis to study the role of steroid hormones in the development of mental and psychiatric disorders.Methods: Adult brains from two established zebr...

Background: Patients with 21-hydroxylase deficiency (21OHD) require life-long glucocorticoid (GC) replacement and have high prevalence of metabolic disease. Our previous work using a zebrafish model of 21OHD (cyp21a2-/-) showed that cortisol-deficient adults were fertile and had normal external sex characteristics, however, they had large body size and increased subcutaneous and visceral fat deposition compared to wild-types. Unlike human 21OHD, they ...

Background and aim: Prader-Willi Syndrome (PWS) is a rare disease with various clinical signs in different age periods. Early diagnosis has a proven benefit in PWS, allows for timely diet therapy and prevention of obesity, early administration of growth hormone. The purpose of the study is to analyze the features of neonatal adaptation in children with PWS, to evaluate the diagnostic efficacy in the dynamics of the analyzed period.<stron...

Introduction: Pseudohypoaldosteronism (PHA) is a clinical syndrome characterized by multiorgan or isolated renal tubular resistance to the effects of aldosterone, resulting in hyperkalemia, metabolic acidosis, and normal to high serum aldosterone levels. PHA may be primary (hereditary) or secondary (acquired). Primary forms are subclassified into two: PHA type 1 (salt-wasting) and PHA type 2 (salt-retaining). Secondary forms are typically associated with sever...

Background: Practicing as a Pediatric Endocrinologist in Armenia means living in a middle- to low-income country with semi-closed borders associated with war and conflicts. There are therefore fewer opportunities to attend educational events or training at highly rated hospitals worldwide to improve knowledge and skills on pediatric endocrinology. In April 2023 the Endocrine Society of Pediatric Endocrinologists (ESPE) held the ESPE Caucasus & Central Asia...