Adult growth hormone deficiency in CEE region: Heterogeneity of the patient pathway.

OBJECTIVES: Adult growth hormone deficiency (AGHD) is a rare disease characterised by abnormal body composition, reduced strength and exercise capacity and impaired psychological wellbeing. An advisory board of leading Central and Eastern European (CEE) endocrinologists was assembled to gain insights into the status of AGHD care in the CEE region. Topics of discussion included the position of adult hypopituitarism/AGHD in health system priorities, availability and affordability of treatments, awareness of AGHD, practice guidelines used in CEE countries and provisions for long-term care of patients. DESIGN: Prior to the meeting, the advisors were asked to summarise, using an itemised survey questionnaire, the usual standards of care for patients with AGHD in their country. At the meeting, the panel of experts discussed the findings and thereby elucidated similarities and differences among CEE countries; these were compared with international guideline-recommended practices for AGHD. RESULTS: All CEE countries involved reported having some type of infrastructure in place for care of patients with GHD transitioning from adolescence to adulthood. Most countries reported having at least one specialist centre for patients with AGHD. The main variations across the region included initial entry into healthcare systems, tests required to confirm AGHD diagnosis and medication reimbursement by health authorities. Most CEE countries relied on international society-led guidelines, while some countries have developed national guidelines. CONCLUSION: The CEE Adult Endocrinology Advisory Board meeting recognised considerable diversity in the care and patient pathways for AGHD across CEE countries. Additional work is needed to optimise care of patients with AGHD in the CEE region.

[Cyclic Cushings syndrome: a case study and overview]. / Cyklický Cushingov syndróm: kazuistika a prehlad.

Cushings syndrome and especially Cushing´s disease represent diagnostically and therapeutically complicated medical situations. In some patients, cyclic changes in cortisol production additionally hamper the diagnosis in terms of source identification and management of hormone overproduction. It may not be clear, whether the patient is cured or not even years after the treatment. It is a rare disorder variant, but we assume that it is underdiagnosed and it´s incidence is actually higher. The article deals with a complicated course of diagnosis and treatment in a patient with cyclic Cushings syndrome.Key words: Cushing´s disease - cyclic Cushing´s syndrome - hypercortisolism.

[Hormonal changes in inflammatory bowel disease]. / Hormonálne zmeny pri chronických zápalových chorobách creva.

UNLABELLED: Inflammatory bowel disease is often accompanied by extraintestinal manifestations due to a common autoimmune etiopathogenesis, chronic systemic inflammation, frequent nutrition deficits, and the treatment. Endocrine system changes belong to manifestations too. Interaction is mutual, Crohn´s disease and ulcerative colitis cause functional and morphological changes of endocrine tissues. On the other hand the endocrine disorders negatively influence the course of bowel disease. In the article we analyze correlation of IBD with gonadal hormone production and fertility, with adrenal function, with the function and morphology of the thyroid, with growth hormone production and growth disorders in children, and with bone mineral density reduction. This topic is not studied enough and needs more analysis and clarification. KEY WORDS: Crohn´s disease - endocrine system - inflammatory bowel disease - ulcerative colitis.

[Hormonal changes in inflammatory bowel disease]. / Hormonálne zmeny pri chronických zápalových chorobách creva.

Inflammatory bowel disease is often accompanied by extraintestinal manifestations due to a common autoimmune etiopathogenesis, chronic systemic inflammation, frequent nutrition deficits, and the treatment. Endocrine system changes belong to manifestations too. Interaction is mutual, Crohn's disease and ulcerative colitis cause functional and morphological changes of endocrine tissues. On the other hand the endocrine disorders negatively influence the course of bowel disease. In the article we analyze correlation of IBD with gonadal hormone production and fertility, with adrenal function, with the function and morphology of the thyroid, with growth hormone production and growth disorders in children, and with bone mineral density reduction. This topic is not studied enough and needs more analysis and clarification.

Noninvasive scoring algorithm to identify significant liver fibrosis among treatment-naive chronic hepatitis C patients.

AIMS: Staging for liver fibrosis is recommended in the management of hepatitis C as an argument for treatment priority. Our aim was to construct a noninvasive algorithm to predict the significant liver fibrosis (SLF) using common biochemical markers and compare it with some existing models. METHODS: The study group included 104 consecutive cases; SLF was defined as Ishak fibrosis stage greater than 2. The patient population was assigned randomly to the training and the validation groups of 52 cases each. The training group was used to construct the algorithm from parameters with the best predictive value. Each parameter was assigned a score that was added to the noninvasive fibrosis score (NFS). The accuracy of NFS in predicting SLF was tested in the validation group and compared with APRI, FIB4, and Forns models. RESULTS: Our algorithm used age, alkaline phosphatase, ferritin, APRI, α2 macroglobulin, and insulin and the NFS ranged from -4 to 5. The probability of SLF was 2.6 versus 77.1% in NFS<0 and NFS>0, leaving NFS=0 in a gray zone (29.8% of cases). The area under the receiver operating curve was 0.895 and 0.886, with a specificity, sensitivity, and diagnostic accuracy of 85.1, 92.3, and 87.5% versus 77.8, 100, and 87.9% for the training and the validation group. In comparison, the area under the receiver operating curve for APRI=0.810, FIB4=0.781, and Forns=0.703 with a diagnostic accuracy of 83.9, 72.3, and 62% and gray zone cases in 46.15, 37.5, and 44.2%. CONCLUSION: We devised an algorithm to calculate the NFS to predict SLF with good accuracy, fewer cases in the gray zone, and a straightforward clinical interpretation. NFS could be used for the initial evaluation of the treatment priority.

[Extraadrenal paraganglioma]. / Extraadrenálny paraganglióm.

Various symptoms may be present in pheochromocytoma and paraganglioma. The tumor can imitate numbers of diseases and often leads to misdiagnosis. Current advances in laboratory techniques (determination of free plasma metanephrines), tumor localization (using positron emission tomography) and surgery techniques together with better understanding of pathophysiology and genetics (role of subunit B of succinate dehydrogenase) lead to earlier diagnosis, changes in strategy and treatment options. Authors introduce case report of retroperitoneal paraganglioma in 59 years old patient. In conclusion, interdisciplinary cooperation in diagnosis and treatment was successful.

Hyponatraemia is an independent predictor of in-hospital mortality.

BACKGROUND: Hyponatraemia increases morbidity and mortality, but the extent to which this condition influences mortality independently of other contributing factors is unclear. MATERIALS AND METHODS: All hyponatremic patients admitted to the internal medicine department during a six month period were included. Medical records were reviewed and patients' demographics, underlying disease, cause of hyponatremia and in-hospital deaths were noted. Control group consisted of patients with normonatremia admitted to the same department during the same period matched 1:1 by sex, age and underlying disease. Difference in in-hospital mortality rate between the study and control groups was tested by chi-square test. Baseline demographics, underlying diseases, cause of hyponatremia and state of hyponatremia correction as possible risk factors for mortality were tested in a multivariate analysis. RESULTS: The baseline cohort of all admitted patients consisted of 2,171 patients. Hyponatraemia was found in 278 (13%) patients (160 females and 118 males). The three most common causes of hyponatremia included gastrointestinal loss (52 patients), decreased oral intake (47 patients), and dilution hyponatremia (45 patients). The in-hospital mortality rate in the hyponatremic group was significantly higher compared with the control group (22% vs 7%, respectively; OR 3.75, 95% CI 2.17-6.48, p<0.0001). In a multivariate analysis age above 65 years, dilution hyponatremia, decreased oral intake as etiologic factors of hyponatremia, and unsuccessful hyponatremia correction were independent factors associated with increased mortality. CONCLUSION: Hyponatraemia represents independent factor associated with in-hospital mortality. Age above 65 years, failure to correct hyponatremia and some specific etiologic factors of hyponatremia are related to increased mortality.

Treatment of Pathological Bone Fractures in a Patient with McCune-Albright Syndrome.

McCune-Albright syndrome is a rare genetic disorder with typical skeletal and endocrine manifestations. The disease course is complicated by recurrent fractures resulting from polyostotic fibrous dysplasia and the treatment is thus primarily directed at the reduction of the risk of fractures. However, due to the complex mechanism of the skeletal damage the standard antiporotic therapeutics are ineffective. We report here a case of a 31-year-old female, diagnosed with the McCune-Albright syndrome in early childhood. She was suffering from extensive bone involvement, complicated by recurrent fractures despite the treatment with bisphosphonates. In addition, the disease course was complicated by the impairment of several endocrine functions-precocious puberty, hyperestrogenism, and hyperthyroidism for which a total thyroidectomy was performed. During the operation, two enlarged parathyroid glands were removed. This resulted in severe hypocalcaemia in the postoperative period with a need for supplementation with very high calcium and vitamin D doses. After this episode, the patient has remained free of fractures. We discuss here the corrected thyroid function, the supplementation with unconventionally high doses of vitamin D and calcium, and the termination of bisphosphonates treatment as presumable factors contributing to the reduced fracture risk in this patient.

Cholelithiasis and markers of nonalcoholic fatty liver disease in patients with metabolic risk factors.

Cholelithiasis and nonalcoholic fatty liver disease (NAFLD) share the same risk factors. The aim of our study was to explore the relationship between these two conditions and to identify independent predictors of both diseases in a cohort of patients with metabolic risk factors. Consecutive patients with metabolic risk factors referred to the outpatient clinic during a one-year period were included. Cholelithiasis was defined by the presence of gallstones on abdominal ultrasound examination at inclusion or previously performed cholecystectomy. NAFLD was defined by the presence of at least one surrogate marker such as elevated alanine aminotransferase and/or gamma-glutamyl transpeptidase and/or ultrasound signs of fatty liver. Other common liver diseases were thoroughly excluded. The prevalence of cholelithiasis among patients with and without NAFLD was determined and clinical and laboratory parameters were identified as predictors of NAFLD by multivariate logistic regression. In total, 482 consecutive patients were included: mean age 61 years; 61% were women; 52% of patients had more than 2 metabolic risk factors (obesity, type 2 diabetes, hypertension, hypertriglyceridemia, or low HDL cholesterol). NAFLD and cholelithiasis were present in 41% and 34% of all patients, respectively. Significantly higher prevalence of cholelithiasis was found among patients with NAFLD compared with patients without NAFLD (47% vs. 26%, respectively; p < 0.0001). In multivariate logistic regression model, type 2 diabetes (odds ratio (OR) = 1.99), BMI above 25 kg/m(2) (OR = 1.78), and cholelithiasis (OR = 1.77) were identified as independent predictors of NAFLD. Fifty six percent of patients with cholelithiasis had NAFLD compared with 33% of patients without cholelithiasis (p < 0.0001). Multivariate logistic regression identified age above 50 years (OR = 3.46), NAFLD (OR = 1.92), triglycerides above 1.7 mmol/l (OR = 1.91), BMI above 25 kg/m(2) (OR = 1.84), and total cholesterol concentration (OR = 0.711) as independent predictors of cholelithiasis. In conclusion, patients with metabolic risk factors and cholelithiasis suffer significantly more often from NAFLD compared with the reference group. Cholelithiasis represents an independent risk factor of NAFLD in addition to metabolic risk factors and could be regarded as an additional risk factor of liver damage in patients with NAFLD. Furthermore, NAFLD is an independent risk factor for cholelithiasis and might represent a pathogenetic link between the metabolic syndrome and cholelithiasis.