ESPE Abstracts

Background: According to the World Health Organization, the social determinants of health, the conditions in which people are born, grow, live and work – significantly influences on health. The CAF Foundation, the Endocrinology Scientific Center and the Institute for Family Health under the Alfa-Endo Program studied prevalence of some social determinants in families of children with type 1 diabetes mellitus.Objective and hypotheses: Investigate soci...

Objective: To evaluate the level of 25 (OH) D – vitamin in obese adolescents living in the South of Russia.Materials and method: We examined 20 obese adolescents with varying degrees of severity, aged 15.5±0.3 years, ten girls and boys. The comparison group consisted of ten healthy adolescents matched for age and sex. Obesity was calculated by BMI. Level of 25-(OH) D – vitamin was studied in the laboratory by ELISA (nmol/l). Furthermore, t...

Background: Kisspeptins, ligands of G protein-coupled receptor 54 (GPR54) encoded by the KiSS-1 gene, have recently emerged as key players of the gonadotropic axis. It was found that KiSS-1/GPR54 system plays an important role in the neuroendocrine control of gonadotropin secretion, brain sex differentiation, puberty onset and fertility. It is important to know if the kisspeptin serum level could be used as a diagnostic criterion to the stage of puberty or impairment of it in ...

Turner syndrome (TS) is characterized by partly or completely missing of an X chromosome and variability of clinical signs. We present tree Caucasian mosaic TS girls with unusual clinical course and discuss some literature.Case 1: A girl referred first to paediatric endocrinologist at the age of 8.5 y. for metabolic problems (an excessive weight gain, acanthosis nigricans, impaired glucose tolerance, hyperinsulinemia). The height was not a concern (Media...

Background: Congenital hypopituitarism (CH) in the neonate which manifests as the deficiency of one or more pituitary hormones can be presented by a highly variable phenotype. Either as isolated hypopituitarism or with associated developmental defects such as ocular, midline, and genital abnormalities. Mutations in genes encoding for a number of transcription factors have been described in a minority of patients with CH. This indicats that further genes remain to be identified...

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...

Objective: To characterise clinical presentation of congenital isolated ACTH deficiency.Methods and results: Clinical and anthropometric data were obtained. Biochemical liver function parameters, blood glucose, insulin, TSH, free thyroxin (FT4), GH, cortisol, and ACTH levels were analyzed. POMC and TBX19 genes were analysed by Sanger sequencing. The girl was born at full-term with normal weight and length. The parents are cousins. At birth cra...

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: Congenital goitre presenting in the newborn period is very rare. Here we present a case of congenital hypothyroidism with a large goitre, leading to trachea compression symptoms. Hormone replacement therapy was started leading to normal levels of TSH, FT4, and thyroid volume. In face of maternal normal thyroid levels, dyshormonogenesis considered to be the most probable cause of hypothyroidism.Case presentation: A male full term ne...

Introduction: Wiedemann-Rautenstrauch syndrome (WRS). or neonatal progeroid syndrome, is an orphan hereditary disease associated predominantly with bi-allelic mutations in the POLR3A, POLR3B, and POLR3GL genes and characterized by congenital lipodystrophy, progeroid facial features, and premature aging. Unlike Hutchinson-Gilford progeria, the clinical features of the syndrome are evident at birth. The prevalence of the disease is unknown; 19 proven clinical ca...