Metastatic thyroid cancer after thyroidectomy in patient with MEN2A syndrome: a case report

Multiple Endocrine Neoplasia Type 2 (MEN 2) is a complex hereditary disorder with a genetic predisposition toward the development of endocrine tumors. MEN2a complex is the most common variant which comprises medullary thyroid carcinoma (MTC), pheochromocytoma and multiglandular parathyroid hyperplasia. MTC is usually the initial presenting feature of this complex and a specific RET codon mutation can help predict the disease and how it will behave

A late diagnosis of MEN 1 Syndrome in a young patient initially pre-senting with nephrolithiasis

Multiple Endocrine Neoplasms Type 1 (MEN 1), originally called Wermer Syndrome, is a rare hereditary condition caused by mutations in the MEN1 tumor suppressor gene. It is characterized by tumors of the parathyroid glands, the anterior pituitary gland and pan-creatic islet cells. Hyperparathyroidism is the most common manifestation of this syndro-me. MEN1 can also be associated with other endocrine and non – endocrine tumors

Pituitary apoplexy in a patient with atrial fibrillation as a side effect of dabigatran treatment

Atrial fibrillation (AF) is the most common heart rhythm abnormality usually present in elderly population significantly increasing the risk for thromboembolic incidents and therefore requiring the long-term treatment with anticoagulant agents. In the last decade, novel ora anticoagulant drugs or NOACs such as dabigatran, apixaban and rivaroxaban have taken over warfarin\u27s role in patients with high risk of blood clothing. They are non peptide, thrombin or coagulation factor Xa inhibitors, consequently patients do not need to control their INR

Definition and Epidemiology of the Metabolic Syndrome

Metabolički sindrom čest je metabolički poremećaj povezan s povećanom prevalencijom debljine. Defi niran je na različite načine, no predviđa se da će u bliskoj budućnosti biti postignut konsenzus o zajedničkoj defi niciji na razini cijelog svijeta. Čini se da se patofi ziologija sindroma zasniva na inzulinskoj rezistenciji i povećanom unosu masnih kiselina. Pretpostavlja se da proinfl amatorno stanje također ima određenu ulogu. Povećani rizik od nastanka kardiovaskularne i šećerne bolesti tipa 2 zahtijeva kontrolu i terapijsku intervenciju kod rizičnih osoba. Osnova pristupa ovom poremećaju je redukcija tjelesne težine uz povećanu tjelesnu aktivnost, no i terapija lijekovima može biti izbor u svrhu smanjenja rizika od nastanka šećerne i kardiovaskularne bolesti.The metabolic syndrome is a common metabolic disorder that results from the increasing prevalence of obesity. It can be defi ned in various ways, but in the near future a new defi nition will be applicable worldwide. Insulin resistance, together with the excessive amount of fatty acids, seems to play a major role in the pathophysiology of this disorder. A proinfl ammatory state probably contributes to the syndrome. The increased risk for type 2 diabetes and cardiovascular disease demands therapeutic attention for those at high risk. The recommended strategy is weight reduction and increased physical activity; however, drug treatment should be considered for risk reduction in patients with diabetes and cardiovascular disease

Tjelesna aktivnost u prevenciji osteoporoze

Na gustoću kosti utječu dob, spol, hormonske promjene, genetski i okolišni faktori. Najvažniji okolišni faktori su: unos kalcija i vitamina D, zatim izloženost suncu, pušenje i tjelesna aktivnost. Tijekom djetinjstva i adolescencije povećava se koštana masa, a odrasloj i starijoj dobi dolazi do njezinog postupnog fiziološkog smanjenja. Najznačajnije mjere u prevenciji osteoporoze su postizanje što veće vršne koštane mase u mladosti i njezino očuvanje tijekom života. Tjelesnom aktivnosti povećava se koštana masa, a s njom i snaga i gibljivost mišića što smanjuje rizik od padova i prijeloma. Utjecaj tjelesne aktivnosti na povećanje koštane mase ovisan je o dobi i najintenzivniji je u periodu rasta. Da bi mehanički podražaj povećao koštanu masu, potrebno je da bude naizmjeničan i intenzivan te da istovremeno postoji adekvatan unos kalcija i kalorija u organizam. Djeca koja su fizički aktivnija i koja se rekreativno bave određenim sportovima imaju veću koštanu masu u odnosu na ostale vršnjake. Sportovi u kojima se skače, opire o podlogu ili podiže teret poput gimnastike, trčanja i dizanja utega značajnije povećavaju koštanu masu. Brojna istraživanja na vrhunskim sportašima pokazala su da sportaši imaju značajno veću mineralnu gustoću kosti u odnosu na nesportaše. Nakon 40. godine života koštana se masa prosječno smanjuje za oko 0,5 % do 1,5 % godišnje. Gubitak koštane mase javlja se brže ako nema nikakvoga mehaničkog opterećenja na kost. Brojne studije pokazuju povoljan učinak tjelesne aktivnosti na smanjenje gubitka mineralne gustoće kosti u odrasloj dobi. Osim održavanja mineralne gustoće kosti, tjelesna aktivnost u starijoj životnoj dobi ima dodatnu važnost jer povećava mišićnu snagu i ravnotežu. Preporuke za provođenje tjelesne aktivnosti odnose se na sve dobne skupine i nemaju dobni limit. Uz to je važno osobama starije životne dobi savjetovati vježbe koordinacije i ravnoteže kao važnih mjera u prevenciji padova.Bone mineral density (BMD) is influenced by gender, age, hormonal changes, and genetic and environmental factors. Nutrition, calcium intake, sun exposure, smoking, and physical activity represent the most important environmental factors infl uencing BMD. Bone mass is gained during childhood and adolescence and gradually declines in adulthood. The two generally accepted strategies in the prevention of osteoporosis are maximising BMD gain in the first three decades of life and minimising age-related bone loss. Evidence shows that growing bone is more responsive to mechanical load than mature bone. To produce adaptive bone response and improve bone mass, mechanical stimulation has to be dynamic, intermittent, and intensive. Simultaneously, abundant availability of nutrient energy, calcium, and vitamin D has to be present. Children who exercise have higher bone mass than their other counterparts. Athletes have higher bone mass than non-athletes. Weight-bearing exercises like gymnastics, running, and weight-lifting have the highest impact on bone mass accrual. In adulthood, bone mass gradually decreases by 0.5-1.5 % per year. In that period of life, the principal strategy for preventing osteoporosis is based on maintaining bone mass and attenuating age-related bone loss. Bone loss occurs more rapidly if there is no mechanical load on the bone. Besides improving BMD in older age, exercise may improve muscular strength and balance and reduce the risk of falls. Recommendations for physical activities are not age-limited. Besides the weight-bearing activities like gymnastics, tennis, climbing, and running, which are essential for preserving bone mass, elderly individuals are advised to perform the activities designed to improve coordination and balance and prevent falls

Predictors of adrenal crisis in patients with Addison\u27s disease

Addison\u27s disease is the inability of the adrenal glands to produce cortisol and aldosterone, which must be replaced by medication. During stress or acute illness, there is a risk of adrenal crisis and it is important to adjust the dose of medication. The aim of this study was to find out how well Addison\u27s disease patients are educated about their disease, its treatment, how often adrenal crisis occurs in these patients, and what the predictive factors are for developing adrenal crisis based on their knowledge

CROATIAN SOCIETY OF ENDOCRINOLOGY GUIDELINES FOR THE DIAGNOSIS AND TREATMENT OF ACROMEGALY

Radna skupina Hrvatskoga endokrinološkog društva sastala se u rujnu 2011. godine radi rasprave o dijagnostičkim i terapijskim dilemama kod bolesnika s akromegalijom. U skupini je bilo 9 supspecijalista iz područja bolesti hipofize, uključujući endokrinologe, neurokirurge i specijalista medicinske biokemije. Nakon kritičke analize publiciranih znanstvenih radova skupina je donijela smjernice za dijagnostiku i liječenje akromegalije.The working group of the Croatian Society of Endocrinology met in September 2011 to discuss the diagnostic and therapeutic dilemmas in patients with acromegaly. The group comprised 9 pituitary specialists including endocrinologists, neurosurgeons, and medical biochemistry specialist. After a critical analysis of published scientific papers the group has developed guidelines for the diagnosis and treatment of acromegaly

The role of IGF-1 (CA)n polymorphism on peak bone mass attainment in males

Cilj: Idiopatska osteoporoza u muškaraca prvenstveno je posljedica niske vršne koštane mase koja je genetski uvjetovana. S obzirom na njegovu važnu ulogu u metabolizmu kosti, između brojnih gena kandidata u patogenezi osteoporoze, od posebnog je interesa gen za čimbenik rasta sličan inzulinu (IGF-1). Prethodna istraživanja pokazala su da je polimorfizam mikrosatelitne regije citozin-adenin (CA)n unutar gena za IGF-1 povezan sa serumskom koncentracijom IGF-I, stoga je primarni cilj ovog istraživanja bio analizirati utjecaj ovog polimorfizma na vršnu koštanu masu u muškaraca. Metode: U istraživanje su uključena 92 zdrava muškarca u dobi od 21 do 35 godina. Svakom je ispitaniku izmjerena mineralna gustoća kosti (BMD) u lumbalnoj kralježnici i proksimalnom dijelu bedrene kosti, koncentracije biljega koštane pregradnje, 25-OHD i spolnih hormona. Rezultati: Ispitanici u kojih je nađen alel (CA)18 (genotip 18+) imali su niži BMD u svim mjerenim područjima, no razlike između ispitivanih skupina nisu bile statistički značajne. Ipak, u homozigota (CA)18 nađen je značajno niži BMD u području vrata bedrene kosti (P=0,03), trohantera (P=0,01) i proksimalnog dijela bedrene kosti (P=0,04), dok razlike u koncentracijama biljega koštane pregradnje, 25-OHD, slobodnog testosterona i estradiola nisu bile statistički značajne. Rasprava: Rezultati ovog istraživanja ukazali su na mogući negativan utjecaj alela IGF-1 (CA)18 na vršnu koštanu masu u muškaraca. Ipak, za definitivne zaključke o ulozi tog polimorfizma u patogenezi osteoporoze potrebna su daljnja istraživanja na većem broju ispitanika i u različitim populacijama.Aim: Idiopathic osteoporosis in males is influenced predominantly by low peak bone mass as a feature under a strong genetic control. Among number of candidate genes, IGF-1 gene is of particular interest due to its important role in bone metabolism. It has been reported that IGF-1 citozin-adenin (CA)n polymorphism is related to serum IGF-1 concentration. Therefore, in the present study we examined the influence of certain IGF-1 (CA)n alleles on peak bone mass attainment in males. Methods: Study sample consisted of 92 unrelated healthy male volunteers, aged 21-35. In each subject, lumba spine and proximal femur bone mineral density (BMD), bone turnover markers, 25-OHD and sex hormones levels were measured. Results: IGF-1 (CA)18 allele (genotype 18+) were found to be �associated with low-lower BMD in all measured areas but the differences between analysed groups were not significant. However, homozygotes (CA)18 had significantly lower femoral neck (P=0,03), trochanter (P=0,01) and total hip (P=0,04) BMD whereas differences in bone turnover markers, 25-OHD, free testosterone and estradiol concentrations were not significant. Discussion: The results of the present study suggested possible negative effect of the IGF-1 (CA)18 allele on the peak bone mass attainment in males. However, for definitive conclusion about the role of this polymorphism in the pathogenesis of osteoporosis further studies in different populations and with larger number of participants are needed

The role of IGF-1 (CA)n polymorphism on peak bone mass attainment in males

Cilj: Idiopatska osteoporoza u muškaraca prvenstveno je posljedica niske vršne koštane mase koja je genetski uvjetovana. S obzirom na njegovu važnu ulogu u metabolizmu kosti, između brojnih gena kandidata u patogenezi osteoporoze, od posebnog je interesa gen za čimbenik rasta sličan inzulinu (IGF-1). Prethodna istraživanja pokazala su da je polimorfizam mikrosatelitne regije citozin-adenin (CA)n unutar gena za IGF-1 povezan sa serumskom koncentracijom IGF-I, stoga je primarni cilj ovog istraživanja bio analizirati utjecaj ovog polimorfizma na vršnu koštanu masu u muškaraca. Metode: U istraživanje su uključena 92 zdrava muškarca u dobi od 21 do 35 godina. Svakom je ispitaniku izmjerena mineralna gustoća kosti (BMD) u lumbalnoj kralježnici i proksimalnom dijelu bedrene kosti, koncentracije biljega koštane pregradnje, 25-OHD i spolnih hormona. Rezultati: Ispitanici u kojih je nađen alel (CA)18 (genotip 18+) imali su niži BMD u svim mjerenim područjima, no razlike između ispitivanih skupina nisu bile statistički značajne. Ipak, u homozigota (CA)18 nađen je značajno niži BMD u području vrata bedrene kosti (P=0,03), trohantera (P=0,01) i proksimalnog dijela bedrene kosti (P=0,04), dok razlike u koncentracijama biljega koštane pregradnje, 25-OHD, slobodnog testosterona i estradiola nisu bile statistički značajne. Rasprava: Rezultati ovog istraživanja ukazali su na mogući negativan utjecaj alela IGF-1 (CA)18 na vršnu koštanu masu u muškaraca. Ipak, za definitivne zaključke o ulozi tog polimorfizma u patogenezi osteoporoze potrebna su daljnja istraživanja na većem broju ispitanika i u različitim populacijama.Aim: Idiopathic osteoporosis in males is influenced predominantly by low peak bone mass as a feature under a strong genetic control. Among number of candidate genes, IGF-1 gene is of particular interest due to its important role in bone metabolism. It has been reported that IGF-1 citozin-adenin (CA)n polymorphism is related to serum IGF-1 concentration. Therefore, in the present study we examined the influence of certain IGF-1 (CA)n alleles on peak bone mass attainment in males. Methods: Study sample consisted of 92 unrelated healthy male volunteers, aged 21-35. In each subject, lumba spine and proximal femur bone mineral density (BMD), bone turnover markers, 25-OHD and sex hormones levels were measured. Results: IGF-1 (CA)18 allele (genotype 18+) were found to be �associated with low-lower BMD in all measured areas but the differences between analysed groups were not significant. However, homozygotes (CA)18 had significantly lower femoral neck (P=0,03), trochanter (P=0,01) and total hip (P=0,04) BMD whereas differences in bone turnover markers, 25-OHD, free testosterone and estradiol concentrations were not significant. Discussion: The results of the present study suggested possible negative effect of the IGF-1 (CA)18 allele on the peak bone mass attainment in males. However, for definitive conclusion about the role of this polymorphism in the pathogenesis of osteoporosis further studies in different populations and with larger number of participants are needed

MANAGEMENT OF ADRENAL INCIDENTALOMA: THE POSITION STATEMENT OF THE CROATIAN REFERRAL CENTER FOR ADRENAL GLAND DISORDERS

Incidentalomi nadbubrežne žlijezde jesu tumori otkriveni tijekom dijagnostičke evaluacije nekoga drugog kliničkog stanja. Tehnološki napredak radioloških uređaja i njihova sve veća upotreba u svakodnevnoj kliničkoj praksi doveli su do češćeg otkrivanja ovih tumora čineći njihovu dijagnostiku i liječenje jednim od najvažnijih izazova moderne endokrinologije. Radi racionalnog pristupa ovim bolesnicima radna skupina koju su činili vodeći hrvatski stručnjaci iz područja bolesti nadbubrežne žlijezde, na temelju relevantne znanstvene literature i postojećih smjernica europskih i svjetskih društava, donijela je preporuke za dijagnostiku i liječenje incidentaloma nadbubrežne žlijezde.Adrenal incidentalomas are tumours of adrenal glands discovered during diagnostic workup for other clinical condition unrelated to adrenal glands. Improvement in imaging techniques and their widespread use in everyday practice have increased detection of adrenal incidentalomas making their management one of the most important challenges of modern endocrinology. Based on the relevant medical literature and guidelines of other international societies a panel of Croatian leading experts in adrenal gland disorders provide practical recommendations for the diagnostics and treatment of adrenal incidentaloma