Endocrine Abstracts

Children with androgen insensibility and female sexual external organs usually are classified as girls. In the puberty observed is the development of female secondary sexual features without menstruation. The treatment of patients with androgen insensibility, because of the risk of neoplastic transfomation must be preceded by castration. Case report: a 14 year old girl was admitted in 2003 to the Clinic with the following anamnesis: birth from the secondary gravidity, normal d...

The authors studied the effect of one year of therapy with rhGH on growth velocity in patients with growth hormone deficiency (GHD). We analyzed 120 patients (85 boys and 35 girls), 6–21.5 years of age (mean 14.2±3.0) treated in Department of Endocrinology and Diabetology for Children and Adolescents, Medical University of Wrocław. Patients received rhGH in a dose of 0.7IU/Kg/week. Partial GHD was diagnosed in 71 cases (52 boys and 19 girls), complete GHD was ...

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...

The first degree relatives of patients with diabetes type 1 have increased genetic risk of developing clinical disease. In the population of Polish diabetic subjects the most frequent alleles are HLA- DRB1*04, DRB1*03, DQA1 and DQB1. The ‘high-risk genotype’ may differ among populations.The aim of this paper was to analyze prevalence of genetic risk factors in patients with new-onset diabetes in Lower Silesia and to compare the data with Polish...

The clinical picture of hypothyroidism is well described. It is well known that thyroid hormones are very important to development and maturation of the central nervous system. They have influence on the synthesis of proteins and production of enzymes and myelin.Myelin synthesis is an important factor in determining the speed of impulse transmission along complex polysynaptic pathways, such as those mediating the evoked potentials....

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...