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: 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 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 ...

Mutations in HNF1A gene underlie the development of maturity onset diabetes of the young type 3 (MODY3). Mutations in ABCC8 gene are the cause of neonatal DM and the rare MODY12, which is clinically similar to MODY3. In these forms of MODY, there is a high sensitivity to sulfonylurea. Patient A, 17 y.o. He was born to woman with gestational DM. At the age of 12.5, fasting hyperglycemia of 13 mmol/l was detected. Insulin therapy was not prescribed due to the parent’s refu...

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...