Endocrine Abstracts

49,XXXXY syndrome is a rare defect of sex chromosomes frequently labelled as Klinefelter variant. It is associated with more severe dysmorphic features, hypogenitalism and mental retardation.The goal: To describe clinical, biochemical, hormonal, radiological and developmental status of the patient with 49,XXXXY karyotype.Report of the patient: 12-month-old boy referred because of underdeveloped genitalia. The patient was born by ca...

Introduction: Trisomy 21 is often associated with congenital malformation and metabolic abnormalities such as glucose intolerance and an increased risk of developing diabetes mellitus.Aim: The aim of this study was to assess carbohydrate metabolism in children with Down syndrome.Material and methods: Thirty nine children with Down syndrome, aged between 2 months and 16 years (mean 6.5 years), took part in the study. Glycaemia befor...

Congenital hypoplastic anemia (Diamond-Blakfan Syndrom) is genetically determined disorder which is manifested in early childhood with selective deficiency of erythrocyte line in bone marrow. Severe anemia usually appears between 2nd and 6th month of life. Survival depends on blood transfusions, which in consequence lead to hemosiderosis. Hypopituitarism, hypogonadism and diabetes mellitus and other endocrinopathies are the complications of hemochromatosis.<p class="abstex...

Turner syndrome (TS) is associated with more frequent ophthalmic morbidity.The goal: To investigate the prevalence and severity of ophthalmic problems in patients with TS diagnosis established on a detailed karyotype analysis.Patients and method: 73 girls with TS aged 2–30 (mean 14.34±6.39) were involved in the study. 45,X monosomy was found in 57.8% of them, different mosaic pattern in 33.8% and structural aberration in ...

Children born with low birth weight (LBW, below 2500 g) exhibit slower development with deficit of height and, in adulthood, an increased risk of developing syndrome X. One possible explanation could be an enhanced elimination of cells by apoptosis. The aim of this study was evaluate of mechanism of lipid peroxidation and activity of caspase 3 in children with low birth weight.Subjects for study were 10 children with LBW and growth retardation (SDSHV&#60...

Introduction: FOXP3 is a critical determinant of T regulatory cells (Tregs) development and function. Treg cells play a crucial role in modulating potentially self-reactive clones, and dysfunction of this cell type contributes to autoimmune disease such as Graves’ disease (GD) and Hashimoto’s thyroiditis (HT). The aim of our study was to estimate the association of three polymorphism of FOXP3 gene with the predisposition to GD and HT in Polish population.<p class...