ESPE Abstracts

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...

Objective: to evaluate the characteristics of eating behavior in children with type 1 diabetes mellitus and various forms of obesity.Methods: We examined 80 children in the University Hospital (Minsk) in 2021. All children were divided into 2 groups: group 1 30 children (18 boys (B) (BMI 31.68±4.57 kg/m2, age 13.23±2.01 years) and 12 girls (G) (BMI 30.30±4.65 kg/m2, age 13.43±2.4...

Background: Adverse changes in metabolic parameters and body composition are frequently reported among childhood cancer survivors treated with cranial or total body irradiation. Data regarding the occurrence of metabolic impairments among survivors following abdominal and pelvic radiation are lacking.Objective and hypotheses: To define the prevalence of metabolic impairments among survivors of paediatric abdominal and pelvic solid tumours and to assess t...

Background: Primary Ovarian Insufficiency (POI) and infertility are common concerns of female Childhood Cancer Survivors (CCS) and are known to impact their quality of life. Increased availability of fertility preservation techniques mandate a better understanding of risk factors for POI in this population.Objective and hypotheses: To describe the prevalence of and risk factors for POI in a cohort of adult CCS.Method: Cross-section...

Objectives: Osteogenesis imperfecta (OI) is an extremely heterogeneous connective tissue disorder characterized by low bone mass, which together with altered bone matrix properties leads to skeletal fragility. Due to the wide range of symptoms, the pathophysiology of the OI is not fully understood. Null mutations in SERPINF1, encoding the potent antiangiogenic factor PEDF, cause type VI OI with excessive osteoid formation, abnormal osteoblast-osteocyt...

Context: Congenital hypothyroidism from thyroid dysgenesis (CHTD) is mainly a sporadic and non-syndromic condition occurring in 1:4,000 live births. In contrast to rare cases of syndromic monogenic CHTD, non-syndromic (NS) CHTD shows low familial recurrence risk (~2%) and low concordance rate between MZ twins, suggesting a two-hit scenario combining post-zygotic events with either a de novo monogenic mutation or incomplete penetrance of polyg...

Background: Childhood brain tumour survivors are at risk of developing endocrine secondary effects throughout lifetime. Transition between childhood and adult care is a critical moment during which patients may stop medical visits and treatments.Objective: To describe endocrine care transition in our cohort of patients with primary brain tumors followed from 2010-2015, who are ≥=18 years old by December 31st</...

Background: Childhood cancer survivors (CCS) are at risk for low bone mineral density (BMD).Objective: Aim of our study was to evaluate the prevalence of low BMD and it’s determinants in a single-center cohort of CCS.Method: One-hundred-eighty-five CCS (103M, 84F) diagnosed with liquid-LT-(n=48), solid-ST-(n=88) and brain tumor-BT-(n=51) at the age of 5.3±3.2 years underwent height, BMI (SDS), T...

Introduction: Patients with Turner syndrome (TS) diagnosed beyond the age of 12 years present a real challenge for therapeutic management. Indeed, compromises must be made between the progressive induction of puberty and an efficient treatment with growth hormone to have the best possible results.Patients and methods: Our study concerns 18 cases of patients followed for ST in endocrinology consultation (CHU Constantine-A...

Background: Turner syndrome (TS) is the most common chromosomal abnormality in females (prevalence 1/2500 births). It is related to the absence or abnormality of one of the two X chromosomes. It is characterized by a short stature, gonadal failure and a many diseases that reduce life expectancy of patients.Objective and hypotheses: Report Clinical, hormonal, Cytogenetics and evolutionary ST characteristics then correlate the karyotype and clinical expres...