Endocrine Abstracts

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...

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...

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...