ESPE Abstracts

The purpose: To identify the clinical features of MODY-GCK diabetes which we need to follow of this group of patients.Materials and methods: We examined 35 patients under the age of 18 years with impaired carbohydrate metabolism. Inclusion criteria were: diagnosed carbohydrate metabolism disorder or diabetes mellitus (DM), normal weight, family history of diabetes, no antibodies, normal or slightly decreased C-peptide level for at least 2 years, absence ...

We described a family in which MODY-GCK was detected in 6 people and its course varied.Materials and methods: The diagnosis of GCK-MODY was verified by the proband and his relatives on the basis of direct automatic sequencing and sequencing by Sanger.Results: Proband – a boy of 12 years, diabetes mellitus (DM) type 1 is diagnosed at the age of 11 years. He felt polydipsia, polyuria. Body weight was normal, he has not any disea...

Background: Mathematical models predicting final height (FH) and its standard deviation score (SDS) in children with growth hormone deficiency is an important tool for clinicians to manage treatment process. Previously developed models do not have enough accuracy or are not good enough for practical use.Objective and hypotheses: We used four binary and seven continuous predictors available at the time of diagnosis and start of therapy and developed multi...

We report a case of a 10-year-old girl born at 41st week and spontaneous birth, in therapy with analogous GnRH for idiopathic central puberty. At 4 years bilateral thelarche, performed first and second level investigations and recives diagnosis of early idiopathic central puberty. Since then, therapy with triptorelin 3.75 mg i.m every 21 days was administrated. Regular checks, good compliance, and response to therapy. At 10 years old recurring episodes of headache and vertigo....

Introduction: Female hypospadias (FH) is one of disorders of sex development signs (DSD). Short and wide urethra that opens into the vagina predisposes to occurrence of recurrent infection of urinary tract, vaginal voiding and postoperative narrowing of artificial vaginal introitus (AVI).Aim: Improve the results of correction FH with stenosis AVI using reintroitoplasty separating the urinary and genital tracts in patients with DSD....

Objective and hypotheses: To study the lipid metabolism in children with diabetes type 1.Method: It was included 44 children (33 girls), the average age – 10.2±3.3 years. Patients were divided: group 1 (less than 5 years) – 23 children (17 girls), mean age 9.8±3.6, the average length of diabetes 2.08±1.5 years. The second (over 5 years) – 21 children (16 girls), mean age of 11.6±2.4, the average length – 7.5±1...

Background: Rare congenital conditions with incongruence of chromosomal, gonadal, and phenotypic sex have been summarized as disorders of sex development (DSD). Included in DSD are conditions with diverse genetic etiology, varying levels of prenatal androgen effects, phenotypes, and subsequently, different medical treatments. Quality of life (QoL) and psychological wellbeing are indicators of successful psychosocial adaptation to the conditions. Studies addressing these issues...

Background: NR5A1 mutations in DSD patients result in a wide range of clinical manifestations.Objective and hypotheses: To evaluate the clinical variability of ambiguous phenotypes and the gender assignment in DSD patients with SF1 mutations.Method: Clinical examination, hormonal tests, ultrasound, laparoscopy and molecular analyses, including direct and parallel sequencingResults: Case 1. A girl, aged 18 mon...

Background: Serotonine transporter gene (SLC6A4) polymorphism is one of genetic aspects of appetite and mood disorders.Objective and hypotheses: To determine the frequencies of 5-HTTLPR locus in promotor part of serotonine transporter gene (SLC6A4) polymorphism in children with different forms of obesity.Method: We examined 191 pubertal obese children. Patients were divided: Group 1 (simple obesity) 143 children, 14.3±1.8 year...

Background: Polymorphic genes Val158Met gene catechol-O-metiltrasferaz (COMT) are used to be responsible for less neurotransmitters utilization.Objective and hypotheses: To determine the peculiarities of neurotransmitters levels in children with obesity and different genotypes of COMT gene.Method: We examined 191 pubertal obese children. Patients were divided: Group1 (simple obesity) 143 children, 14.3±1.8 years, 30.6±2.8...