ESPE Abstracts

Background: Many organs of human body are attacked by autoimmune processes and countless number of genes are involved in their pathogenesis. Diabetes mellitus type 1 (T1DM) attaching pancreas is a common autoimmune disease in childhood. Among autoimmune thyroid diseases (AITD) we can distinguish less frequent in children population- Graves’ disease (GD). Thyroid stimulating hormone receptor (TSHR) gene encodes membrane protein responsible for thyroid metabolism. Interfero...

Osteogenesis imperfecta (OI) is a hereditary disease characterized by skeletal findings like increased fracture rate, deformed long bones and vertebral compression fractures. Non-skeletal findings include hypermobility of joint, hearing and dental impairments and weakness of collagen involving structures like vessels and valves. Therapy is based on an interdisciplinary approach including orthopaedic surgery to correct deformities, physiotherapy to increase musclefunction and p...

Background: Turner syndrome (TS) occurs in 1/2000 newborn girls. Primary ovarian insufficiency (POI), due to an increased follicular apoptosis, is a classic feature of TS. It occurs in more than 95% of TS patients. Therefore, oocyte donation is often the only option for women desiring a pregnancy.Objective and hypotheses: Few studies have reported the outcome of spontaneous pregnancies (SP) in TS patients.Method: We evaluated the p...

Background: Glucocorticoids exert profound immune-modulating effects and regulate the expression of genes involved in cell cycle progression and apoptosis. Synthetic glucocorticoids are the most potent agents used in the treatment of inflammatory, autoimmune and lymphoproliferative disorders. Considerable variation in response to therapeutic doses of glucocorticoids exists among individuals, as evidenced by differences both in disease response and in the incidence of glucocort...

Background: Co-occurrence of type 1 diabetes (T1D) and autoimmune thyroid disease (AITD) denote variant of autoimmune polyglandular syndrome type 3 (APS3v). Thyroid autoimmunity in T1D was widely studied, but a few studies examined β-cell autoimmunity among AITD patients. Several susceptibility genes for APS3v have been identified: HLA class II, CTLA-4 and PTPN22 gene.Objective and hypotheses: To investigate β-cell autoimmunity and genetic poly...

Background: The classical presentation of type 1 diabetes mellitus is as diabetic ketoacidosis. As health awareness and access to healthcare improves, more subjects with type 1 diabetes are diagnosed early and present with less severe forms of hyperglycaemia. India accounts for most of the children with type 1 diabetes in South East Asia, but studies on the initial presentation is lacking from India.Objective and hypotheses: The aim of the study was to a...

Background: Cystic fibrosis-related diabetes (CFRD) is the most common co-morbidity in association with cystic fibrosis. Cystic fibrosis related diabetes is predominantly an insulin deficiency state it shares features of both type 1 and type 2 diabetes, yet there are important differences, which necessitate a unique approach to diagnosis and management. Development of cystic fibrosis related diabetes is associated with a worse lung function, poorer nutritional status, and more...

Background: Differential diagnosis between XY partial (PGD) and mixed gonadal dysgenesis (MGD) was initially established by histological evaluation; however, when there is a 45,X lineage there are differences not only in clinical aspects but also in prognosis.Objective and hypotheses: The aim of this work was to analyze clinical picture of patients with genital ambiguity due to testicular dysgenesis, with and without a 45,X lineage, and compare these con...

Background: In recent years more and more genetic defects along the GHRH–GH–IGF-I axis have been reported. Those mutations of the IGF-I receptor (R) are a rare abnormality of whom only the heterozygotes progenies survive.Objective and hypotheses: To determine the birth length, weight and brain size using head circumference and find out whether these correlate with the type of mutation.Method: Collection of data of 65 neon...

Background: GH deficiency (GHD) diagnosis includes clinical manifestations, laboratory tests and imaging. There are controversies about the validity of the GH stimulation test. A variety of stimulation tests are used in clinical practice. The biochemical definition of GHD has generally been considered to be a peak stimulated GH concentration <10 ng/ml.Objective: The aim of this study was to check if there is a statistically significant relation betwe...