ESPE Abstracts

Background: Pseudohypoparahthyroidism is a rare genetic disorder that is characterized by unresponsiveness to parathyroid hormone and abnormal calcium regulation. Several subtypes have been established according to clinical appearance, resistance of other hormones, and recent genetic findings. Although little is known about the pathogenesis of heterotopic calcifications of soft tissues and brain, they are frequently found.Objective and hypotheses: Evalua...

Background: Disorders of carbohydrate metabolism in children and adolescents with cystic fibrosis occur from 5 to 12.6%, significantly increasing during the teenage period and reaching 24–50% in adults.Method: An analysis of 499 medical records was conducted. All the patients were treated in the Russian Children’s Clinical Hospital in 2012. The survey was carried out on carbohydrate metabolism and indications according to children after 12 year...

Background: Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder arising from lack of expression of paternally inherited imprinted genes on chromosome 15q11–q13. Hyperphagia represents one of the most serious symptoms of the PWS, leading to develop premature mortality.Objective and hypotheses: To compare orexigenic (ghrelin) and anorexigenic factor (brain derived neurotrophic factor (BDNF)) concentration in non-GH-treated obese pati...

Background: To date a lot of data on the efficacy of GH treatment of children with short stature was accumulated. GH is the major but not exclusive endocrine regulator of linear growth. Influence of multiple pituitary hormone deficiencies on the final growth remains poorly understood.Aim: To compare the results of treatment with GH in patients with isolated GH deficiency and multiple pituitary hormone deficiencies.Methods: 15 patie...

Background: Thyroid dysfunction is well-established feature in children with Down syndrome (DS). There are several reasons for both clinical (CH) or subclinical (SH) hypothyroidism in these children- thyroid dysgenesis and dyshormonogenesis early in life, thyroid insensitivity to TSH; or autoimmune disease during school age.Objective and hypotheses: Evaluation of thyroid function in children with DS.Method: Thyroid function from 80...

Clinical case: A 17-year-old patient was observed with a diagnosis of GD in October 2016. When the patient was examined in the hormonal profile there were hyperthyroidism, a high titer of antibodies to the TSH receptor, in connection of which thyrostatic therapy initiated. In dynamics since November 2018 there has been a pronounced increase in the total volume of the thyroid gland. Firstly she was examined at the Endocrinology Research Center in October 2019...

Introduction: Variegated mosaic aneuploidy syndrome (MVA) is a rare autosomal recessive disease characterized by a variable percentage of chromosomal gains and losses, resulting in multiple mosaic aneuploidies, which explains a great phenotypic variety and may predispose to the development of cancer. Bi-allelic mutations in CEP57 are the cause of MVA2. CEP57 encodes a centrosome protein involved in microtubule stabilization and is crucial for maintaining prope...

Background: Prader-Willi syndrome (PWS) is a complex, multisystem disorder that arises from lack of expression of paternally imprinted genes on chromosome 15q11-q13. Its major clinical features include neonatal hypotonia, short stature, developmental delay, hyperphagia, childhood onset obesity, hypothalamic endocrinopathy and characteristic appearance. It is known that due to severe obesity PWS patients are prone to develop type 2 diabetes mellitus (T2DM), whi...

Objective: To study clinical and laboratory characteristics of patients with disorders of sex development (DSD) 45,X/46,XY and 46,XY, partial gonadal dysgenesis.Subjects and Methods: It was included 27 patients with disorders of gonadal dysgenesis at birth to 9 years, which were divided into groups based on cytogenetic survey – DSD 46,XY, partial gonadal dysgenesis (n=10) and DSD 45,X/46,XY (n&...

The purpose of this study is to determine the frequency of occurrence and molecular-genetic characteristics of MODY in patients with diabetes mellitus aged 1 to 18 years, residents of St. Petersburg.Materials and methods: In St. Petersburg in 2017, there were 1620 patients with diabetes mellitus under the age of 18 years. 54 of them had evidence of hereditary variants of diabetes with chronic hyperglycemia at normal c-peptide indices for 2 years after th...