ESPE Abstracts

Background: Floating Harbor syndrome (FGS) is a dominant autosomal genetic disorder characterized by facial dysmorphism, delay in language development and short stature associated with delayed bone age. Currently there are about 100 cases reported worldwide. Although the short stature is one of the main features of the FHS, its etiology is poorly understood. A limited number of cases reported growth hormone deficiency as a cause of short stature in FHS and the evolution during...

Background: Children with rare genetic disorders may have different endocrine problemsObjective and hypotheses: To present 4 paediatric patients (3 M, 1 F) aged 4.3 – 16.9 y.o. (mean age 11±5.5 years) with different genetic syndromes: Pallister-Hall, Holt-Oram, Ellis–van Creveld and Marshall.Method: Retrospective study.Results: Mean age of diagnosis was 5.3±2.7 y.o. All children had growth...

Background and aims: To study the prevalence of metabolic syndrome and its components (impaired fasting and after overload glucose, type 2 diabetes mellitus, low cholesterol HDL, and high triglycerides) in children with obesity.Methods: This research includes 550 (65.8% boys) children, recruited from Pediatric Endocrinology Department, with abdominal obesity. We measured BMI, waist circumference, blood pressure with standard instrumentation and glucose (...

Background: Introital stenosis in CAH girls could occur due to poor estrogenisation of vaginal tissue. It is unknown whether CAH genital skin is equally capable of responding to estrogens and androgens, depending on form and degree of external virilisation.Objective and hypotheses: To determine the levels of oestrogen α (ERa) and androgen receptors (AR) immunoreactivity in genital tissues of girls with CAH.Method: Surgical was...

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: 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 ...