Endocrine Abstracts

Poland syndrome (PS) is a defect consisting in unilateral deficiency of the pectoralis major muscle and anomaly of the ipsilateral upper limb, usually in the form of syndactyly or synbrachydactyly. The absence of a nipple and the aplasia of a mammary gland are frequently found. The incidence of PS ranges from 1:7000 to 1:100 000.The authors present a 5-year-old girl with a very rare coincidence of PS and Turner syndrome. The child was born after 38 weeks...

Women with Turner syndrome (TS) more frequently develop cardiovascular disease. Abnormal lipid metabolism is a well known risk factor for ischemic heart disease. Adiponectin as well as cytokines are useful tool in evaluation the fat tissue metabolism.The aim of the study was to evaluate the relationship between adiponectin, TNF-alpha, IL-6 and lipids in patients with TS.Patients and method: The study group consisted of 87 girls wit...

Background: Increased adiposity and insulin resistance are conditions frequently observed nowadays. Many hormones are involved in the pathogenesis of the condition but therapeutic options we can offer to the patients are still scant. Each newly discovered peptide give us hope. Adropin (Ad) is a newly discovered metabolic hormone involved in energy homeostasis. This homeostasis is frequently disturbed in patient with Turner Syndrome (TS). Patient with Turner syndrome are unique...

The individual development of patients with Turner’s syndrome (TS) is determined by the illness from the moment of diagnosis. The aim of the study was to determine life quality (QL) of TS patients and their concept of health.Patients and methods: Twenty-six TS patients aged 18–25 who experienced many years of treatment. R L Schaloc, K D Keith Life Quality Questionnaire was used to determine their QL. Their views on health were analyzed on the b...

Quality life satisfaction is important for personal resources analysis and perspectives for coping with ilness.The aim of the study was to present a psychological portrait of a woman with Turner’s syndrome (TS) and assessing perspectives for increased well-being of such patients. The study concerns psychological aspects of TS women’s own assessment of their health and illness.The area of interest was:<p class="...

Brown adipose tissue metabolism is of remarkable pathophysiological interest, because it could be a target for future therapies for obesity and metabolic syndrome. Irisin (Ir), recently identified novel adipomyokine is essential in a white-to-brown fatty tissue transdifferentiation, and mediates some of the positive influences on metabolic disorders through increase of energy expenditure. The exact regulation of Ir secretion and action is unknown but significant positive assoc...

Introduction: Mutations in FSHβ gene leading to isolated follicle-stimulating hormone (FSH) deficiency are very rare and the disorder is inherited in an autosomal recessive manner. Up to date, only few case reports have been described in the literature.Case report: 25-years old woman was admitted to the Endocrinology Department with a suspicion of FSH deficiency. She was firstly diagnosed with primary amenorrhoea and impaired pubertal development at...

Children born with low birth weight (LBW, below 2500 g) exhibit slower development with deficit of height susceptibility to recurrent infections, especially of respiratory tract 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.<p ...

Children, who are born with low birth weight (less 2500 g) are known to have an increased risk of developing lipid disturbances and atherosclerosis in later live.PPAR alpha activity could play a regulatory role in the pathogenesis of hyperlipidemia and a modulatory role in the control of inflammatory response.The aim of this study was to determine whether the presence of polymorphism in gene of peroxisome proliferators-activated re...

Metabolic disturbances occur more often in patients with Down Syndrome (DS, trisomy 21) than in the health population.Superoxide dismutase (SOD-1), the main enzyme in the antioxidative system, is coded on chromosome 21. Disturbances in the antioxidative system may play a major role in the development of complications of CHD with arterio-venous shunt.The aim was to evaluate the activity of SOD-1 and concentration of LPO in children ...