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...

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...

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="...

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...

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 ...

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...

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...