ESPE Abstracts

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: 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...

Objective: to determine risk factors of co-existing thyroid autoimmunity in children with type 1 diabetes mellitus (T1DМ).Material and Methods: 48 children with combined autoimmune pathology (45 – with T1DМ and autoimmune thyroiditis and 3 – with T1DМ and Grave’s disease) – main group, age 12.51±3.57 years) and 99 patients with only T1DM (comparison group, age 11.76±3.05 years) w...

Background: Among alimentary factors leading to obesity in children, the main ones are: consumption of high-calorie foods with high content of carbohydrates and getting more calories during the second half of the day.Objective: To study feeding habits in children of different ages with alimentary obesity compared with normative values.Methods: We compared 3-day food diaries of 115 children with alimentary obesity with nutritional s...

Background: Due to the Ukrainian Pediatric Diabetes Register (UPDR) the number of children with 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). The diabetes prevalence rates increased from 9.3 (per 1000) in 2007 up to 12,57 (per 1000) in 2018. CSII is well established in pediatric patients with DM1. Most studies focus on such parameters as HbA1c levels...

Introduction: The birth of a child with disorders of sex development (DSD) requires a long-term strategy of monitoring and treatment which is carried out by a multidisciplinary group of professional physicians, with a mandatory understanding of the psychosocial problems in a child and parents.Materials and Methods: Gender self-identification was investigated in 20 children and adolescents with DSD aged 1.5-17 years. To d...

Background: GNRHR gene mutations are responsible for development to normosmic idiopathic hypogonadotropic hypogonadism (iHH) and known to be the most frequent cause of this condition. Nevertherless, the reported frequency of GNRHR mutations in iHH patients estimated to be as low as 3-6%.Objective: To evaluate the frequency of GNRHR gene defects in a heterogeneous group of Russian patients with iHH and described the p...

Background: Being born small for gestational age (SGA) is an associated condition to nonspecific 46,XY DSD (without molecular diagnosis and with no specific disorders of undermasculinization). However, the underlying mechanism of the relationship between the presence of genital abnormalities and intrauterine growth restriction is unknown. The GH-IGF system is crucial for sex differentiation in mice and in humans, members of this system were detected in embryon...

Disorders of sex development (DSD) are those congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. The aim of this study was to characterize the histology of 46,XX DSD prepubertal gonads. We studied 25 gonads of fourteen 46,XX DSD patients. The age of biopsy/gonadectomy was 1.17 (0.08–4.17) years (median and range). Molecular studies confirmed the absence of SRY by PCR and/or MLPA in blood samples of all patients and i...

Background: In Androgen insensitivity syndrome (AIS) is a hereditary disease in which AR mutations in 46,XY patients present with partial (PAIS) or complete (CAIS) defects in virilisation.Objective and hypotheses: The aim was to analyze the effect of lack of androgen action in germ cell (GC) health and survival along postnatal development, previous to Sertoli cell (SC) pubertal maturation.Method: The histological features and quant...