ESPE Abstracts

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: Obesity in adults is closely associated with an increased prevalence of thyroid gland (TG) pathology, but thyropathy formation issues among children are not sufficiently studied.Objective and hypotheses: To determine the prevalence and structure of TG pathology in children with obesity by gender and degree of puberty.Method: In 121 patients 6–16 years old with obesity a thyropathy detection was conducted (diffuse n...

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...

Background: Steroidogenic Factor 1 (NR5A1/SF-1) is essential for the development and function of human sex and steroid organs. Variants of SF-1 lead to a broad spectrum of phenotypes including adrenal insufficiency and differences of sex development (DSD), but data on the whole picture of phenotypes in individuals with SF-1 variants are currently lacking. We aim to investigate the phenotype of individuals with SF-1 variants in a large interna...

Background: In children, papillary thyroid cancer (PTC) is generally sporadic and may, less frequently, be part of an undiagnosed hereditary tumor predisposition syndrome (HTPS). Somatic molecular testing is useful to understand tumor etiology and behavior, predict prognosis, and possibly guide development of novel treatment strategies. RET/PTC fusions were found to be associated with an increased risk of invasive disease. The aims of our study were to analyze...

Background: Growth problems, such as stunting, are commonly found in daily pediatric practice. Stunting is a significant problem in developing countries, and is part of the Sustainable Development Goals (SDG) Goal 2 of ending hunger. In Indonesia, the rate of stunting in children under 5 years old is still considered high, despite improvement in quality of life due to rapid economic development. The rate of this improvement is unequal throughout the nation, wh...

Background: Congenital adrenal hyperplasia (CAH) caused by 3ß-HSD deficiency is a rare form of congenital adrenal deficiency with an autosomal recessive type of inheritance. We have previously demonstrated that a single nucleotide variant NM_000198.3:c.690G>A (P.W230X) in the homozygous state is a frequent cause of CAH among the indigenous population of North Ossetia-Alania represented by Ossetians.Aims: To stud...