ESPE Abstracts

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...

Objective: To examine the clinical and hormonal predictors of start pubertal in boys with constitutional delay of puberty (CDP).Materials and methods: The study included 42 boys with CDP (Tanner1, max LH>10 IU/l of GnRH stimulation test). At the first visit in 14.5±0.7 years we evaluated anthropometric indicators, bone age, testicular volume and hormonal status (TSH, freeT4, prolactin, IGF-1, insulin, DHEAS, cortisol, LH, FSH, estradiol, testost...

Background: Klinefelter syndrome (KS) is the most common cause for hypergonadotropic hypogonadism. Patients with 47,XXY karyotype often have increased gonadotropin levels at early puberty, which stay high during adolescent and adult life due to hyalinisation of seminiferous tubules of testes. We report a clinical case of 47, XXY KS patient with low gonadotropin levels.Clinical case: A boy was referred to an endocrinologist at the age of 12,5 years due to...

Background: Type 1 insulin-like growth factor receptor (IGF-1R) is the product of a single-copy gene located on chromosome 15 and is ubiquitously expressed in humans. Increased hepatic IGF-1R gene expression is found in hepatocellular carcinoma and in chronic hepatitis C, making parenchymal and non-parenchymal cells more susceptible to the mitogenic effects of IGF-1.Objective and hypotheses: As we have previously demonstrated that IGF-1 and IGF-2 circula...

Objective and hypotheses: To evaluate endocrine risk factors of testicular cancer of children with testicular microlithiasis.Method: Under research were 74 patients with testicular microlithiasis (average 11.41±4.02). Heredity, case history, endocrine diseases, anthropometric indicators, ultrasound of the scrotum were evaluated.Results: At 20 of 74 (27%) children microlithiasis was combined with strong risk factors of testicle...

Objective: To study clinical and laboratory characteristics of patients with disorders of sex development (DSD) 45,X/46,XY.Subjects and methods: It was included 248 patients with genital ambiguity, which were divided into groups based on cytogenetic survey. All children with mosaicism 45,X/46,XY evaluated the structure of the external genitalia on the external masculinization score (EMS, range 0–12), ultrasound examination, the definition of anti-Mu...