ESPE Abstracts

Introduction: Disorders of sexual development (DSD) include etiologically heterogeneous group of patients that have disorders of genital development. Consensus guidelines that are currently used, divide all DSD in three main groups - sex chromosomal abnormalities, XX or XY DSD, all divided in subgroups in dependence of genetics and hormonal tests. The phenotypic spectrum of external genitalia, gonads and development of Wolfian and Mulerian duct derivatives var...

Objective: To study the structure and characteristics of child thyrotoxicosis syndrome.Materials and Methods: At the 1st stage, medical records of patients treated at the Endocrinology Unit of the Children's Hospital named after Z.A. Bashlyaeva of the City of Moscow in 2014-2018 (n=4530) were analyzed. At the 2nd stage, a primary examination of 106 children 3 to 17 years old with a diagnosis of thyrotoxi...

Background: Low birth weight is associated with increased cardio-metabolic diseases in adulthood. Specific circulating miRNA seem to be predictive of cardio-metabolic risk.Objective: Our aim was to investigate the circulating levels of mir-122, mir-16, mir-126, and mir-486 in a cohort of SGA and AGA subjects, evaluated longitudinally in childhood and early adulthood.Method: Anthropometric and biochemical-metabolic evaluations were ...

Introduction: The heterozygous activating mutations in the KCNJ11 and ABCC8 are the commonest causes of permanent neonatal diabetes mellitus (PNDM). The most severe clinical form of NDM is DEND syndrome. Besides diabetes mellitus such patients show severe developmental delay, hypotonia and therapy-resistant epilepsy. To our knowledge only some cases of DEND syndrome due to ABCC8 mutations are sulfonylurea-responsive. Here we report case of DEND syndrome due t...

Objectives: To study predictors of target levels of glycosylated hemoglobin (HbA1c) in children with diabetes mellitus type 1 (DM1), receiving pump insulin treatment.Materials and Methods: 64 children (27 girls, 46 adolescents) with diabetes mellitus type 1 (mean age 12.8±3.5 years, disease duration 4.46±3.1 years, daily insulin dose 0.82±0.24 units) receiving pump insulin treatment for 2.46±1.43 years were studied. The res...

Topic: Compliance for monitoring of glycemic control in children with type 1 diabetes.Background and Aims: To estimate attachment of children with type 1 diabetes to self-control of blood glucose with help of automatically data processing system of glycemic control.Method: We have checked 54 patients with first type diabetes at the age 14±3, 4 years old (32 males, 22 females), divided into two age groups: from 0 to 14, and 15-...

Background: Obesity is a complex disease that have an impact of many organs and systems. Syndromic obesity, although rare separately, encompasses around 70 entities with different phenotypic expression, gene involvement and associated anomalies. There are many genes that can influence obesity, either monogenic or polygenic in basis. Children with syndromic obesity need additional testing in order to indentify a specific disorder. Metabolic set up and endocrinological disturban...

Background: The risk of cardiovascular diseases is increased in girls with TS. The influence by combined GH and estrogen treatment on a condition of cardiovascular system is actively discussed.Objective and hypotheses: We performed this study to assess th effects of combined GH and estrogen treatment on lipid metabolism and systolic function of the left ventricle (LV) in girls with Turner syndrome without clinically relevant cardiac abnormalities.<p ...

Background: Kallmann syndrome (KS) is a genetic disorder, mainly characterized by the association of anosmia (due to hypo/aplasia of the olfactory bulbs) and hypogonadotropic hypogonadism (due to GnRH deficiency). Both partial or complete forms are described. Other features (skeletal and renal malformations, deafness, bimanual synkinesis) can be variably associated. Behind this phenotypic heterogeneity, there is a considerable complexity of genetic mutations. KAL1, <e...

The LMNA gene encodes lamin A/C, intermediate filament proteins associated with the inner nuclear membrane. Mutations in LMNA gene cause a wide range of human diseases sometimes called ‘laminopathies’ that affect different organ systems depending upon the mutation. Most laminopathies involve tissue of mesenchymal origins, resulting in such features as cardiac disorders and/or muscular dystrophy, lipodystrophy or progeroid syndromes. The group of progeroid syndromes i...