ESPE Abstracts

Abstract: The development of endocrine disorders after complex treatment of medulloblastoma is out of doubt. Much less attention is paid to the study of metabolic changes in the outcome of treatment. In our clinic, we examined 63 patients (40 males/23 females) after the complex therapy of medulloblastoma (surgery, craniospinal radiation therapy and chemotherapy). Patients had a median age (range) of 11.3 (5.5÷17.9) years. They were treated for medulloblas...

Background: Steroidogenic factor 1 (encoded by the NR5A1gene) is a transcriptional regulator of genes involved in gonadal development and steroidogenesis. Mutations in NR5A1 have been identified among the most frequently genetic causes of disorders of sex development (DSD).Objective: To report the phenotype of 31 patients associated with 17 novel and 9 previously described NR5A1 sequence varian...

Objective: To evaluate bone mineral density (BMD) and its relationship with vitamin D in children with obesity.Methods: We examined 110 children in the University Hospital (Minsk) from 2015 to 2018 yrs. Their anthropometric parameters (height, weight, body mass index (BMI)) were determined. Body composition with evaluating of mineral component were made by dual energy X-ray absorptiometry with the calculation of feet, hands, spine, ribs, hips BMD (g/cm<s...

Background and Objective: The American Norditropin Studies: Web-Enabled Research (ANSWER) Program is a long-term, US-based, non-interventional study designed to collect information on the effectiveness and safety of Norditropin® growth hormone (GH). From June 2002 to September 2016, 20,204 pediatric patients were enrolled by their treating physicians, including 1,003 patients with Turner syndrome (TS). This analysis compares cumulative GH doses when adjusting G...

Background: Vascular endothelial growth factor (VEGF) is a signal protein produced by cells that stimulates vasculogenesis and angiogenesis. It is part of the system that restores the oxygen supply to tissues when blood circulation is inadequate. Serum concentration of VEGF is high in bronchial asthma and diabetes mellitus. Overexpression of VEGF can cause vascular disease in the retina of the eye and other parts of the body.Objective and hypotheses: The...

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: An accurate and comprehensive assessment of steroid hormones is pivotal for differential diagnosis of disorders of sex development (DSD) 46,XY, a part of which may be due to defects of testosterone biosynthesis.Objective and hypotheses: To describe and characterise a case of DSD 46,XY presented with unusual serum steroid profile.Method: Serum steroid hormones were analysed by liquid chromatography-tandem mass spectromet...

Background: Congenital adiptical diabetes insipidus is rare condition in infancy. Immediate diagnosis and treatment is required to ensure normal development.Case report: A boy, from the 2nd pregnancy, 1st term delivery was born with weight 4480 g. Bottle feeding from the 1st months. Weight at 1st months – 4500 g, at 2nd – 5000 g. Until the first 2 months mother complained on child’s apathia, feeding problems, vomiting, weight stagnation. A...

Background: Postnatal linear growth is characterized by a steady decline of growth velocity in healthy individuals, with the exception of sex-steroid induced pubertal growth. Pharmacologic interventions in growth disorders are limited to systemic application of growth factors such as growth hormone, and CNP analogues in conditions with FGFR3 overactivation. Tyrosine kinase receptor inhibitors (TKI) represent a heterogenous group of drugs, mostly used for oncol...

Background: McCune-Albright-Syndrome (MAS) is an extremely rare multisystem disorder that affects bones (fibrous dysplasia), skin (cafe-au-lait spots) and endocrine organs (hyperfunctioning endocrinopathies) and is caused by somatic mutations in GNAS gene.Materials and methods: We have evaluated 55 pediatric patients (44 girls (G) and 11 boys (B)) diagnosed in the period of 20 years. Mutation analyses using competitive allele-specific TaqMan PCR...