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Background: Thyrotropin receptor autoantibodies (TSH-R-Ab) are indispensable biomarkers in the laboratory assessment of thyroid-associated orbitopathy (TAO). Clinical sensitivity of three different assays for TSH-R-Ab determination was evaluated in patients with TAO. Methods: 87 consecutive TAO patients were enrolled and their serum samples analyzed in parallel with three assays. An ECLIA competitive binding and a chemiluminescent bridge immunoassay were used to measure total and bind-ing TSH-R-Ab concentration, while their functional activity was determined using a stimulatory TSH-R-Ab (TSAb) cell-based bioassay. Results: Compared to the two binding assays (ECLIA p

Syndrome Fahr is described as calcification of the basal ganglia and is a rare inherited or sporadic neurological disease with a prevalence of 1:1000000 (1). For the first time described in 1930 in the works of Dr. Karl Theodor Fahr, it is characterized by calcium deposition in areas of the brain to control movement: basal gamma, thalamus, cerebral cortex, cerebellum, dentate nucleus, subcortical white matter and hippocampus (2). The diagnostic criteria were revised and modified by Moskowitz et al. in 1971., Ellie et al. in 1989. and Manyam in 2005. and include: bilateral calcifications of the basal ganglia confirmed by neuroradiological visualization, progressive neurological dysfunction and neuropsychiatric manifestations, absence of biochemical and somatic entities of mitochondrial disease, absence of infectious, traumatic, or toxic etiology, and autosomal dominant inheritance (2,3,4). Etiologically, endocrine diseases, and especially parathyroid gland dysfunction, are closely related to Farr's syndrome, including idiopathic hypoparathyroidism, secondary hypoparathyroidism, pseudohypoparathyroidism, pseudo-pseudohypoparathyroidism, and hyperparathyroidism. Pseudo and pseudo-pseudohypoparathyroidism are defined by a phenotypic spectrum induced by a mutation in RNA. They manifest on average at the age of 8 to 10, with clinical manifestations very similar to hypoparathyroidism, except for a slightly more pronounced intellectual declension. The term pseudohypoparathyroidism (PHP) for subtypes PHP type IA and PHP type 1C includes diseases that share the biochemical characteristics of hypoparathyroidism (hypocalcemia and hyperphosphatemia), and which are the consequences of resistance of target tissues to the action of parathyroid hormone. In some cases, resistance to TSH, gonadotropins, GHRH and calcitonin, which have receptors bound to the Gs Alpha subunit, is detected. Patients with type 1A and type 1C PHP show diverse phenotypic expression combined by the term Albright hereditary osteodystrophy (AHO), which includes premature closure of bone and short bone growth zones, low growth, ectopic calcifications. More specifically, based on the dissemination of ectopic calcifications, patients were classified into three categories: pseudohypoparathyroidism, progressive bone heteroplasia, and osteoma cutis. Our patient was diagnosed as pseudohypoparathyroidism at an early age based on the phenotype characteristics of AHO and the biochemical findings of hypocalcemia. Substitution therapy with vitamin D and calcium was introduced, and after pronounced changes in behavior, feelings of being followed and extreme anxiety, he was hospitalized in the Clinic for Neurology and in the Clinic for Endocrinology, Clinical Center of Serbia. Neurofunctional studies have shown progressive decline in intellectual function, neuroradiologically were detected zones of calcification of the basal ganglia and frontal subcortical white matter, as well as hypothyroidism as a consequence of TSH resistance. High concentrations of calcitonin were detected, also as a consequence of resistance of target tissues to calcitonin.

Female pseudohermaphroditism represents discrepancy between karyotype and gonadal features on one side and a psychogenic phenotype on the other. Congenital adrenal hyperplasia is the part of the spectrum of female pseudohaermaofroditism and is due to an enzyme deficiency in steroidogenesis. More than 95% of patients have 21 hydroxylase deficiency which leads to a lack of cortisol and ACTH hypersecretion of pituitary, overproduction of 17 hydroxy progesterone (17OHP) and androgens and adrenal cortex hyperplasia. The clinical phenotype is classified as classical and nonclassical (aka. 'Late onset' form). The classic form is represented as salt-waisting and simply virilizing, depending on the degree of lack of aldosterone. Pathophysiology of CAH due to the lack of 21α hydroxylase is closely associated with the degree of enzyme deficiency. Overproduction of androgens is leading to accelerated virilisation. Classical form is manifested in childhood and is characterized by the overproduction of cortisol precursors and adrenal androgens. In the most severe form, co-aldosterone deficiency leads to loss of salt with all the complications. Girls with the classical form of CAH typically have am ambiguous genitals at birth due to high concentrations of androgens in utero. CAH due to 21OH deficiency is the most common cause of ambiguous genitals in 46XX newborns. Characteristically, the clitoris is enlarged, partially fused labia maiora and a common urogenital sinus at the site of the urethra and vagina. The uterus, Fallopian tubes and ovaries are present and normal, a structures of Wolfian duct are absent. When diagnosed in childhood 46XX CAH patients has been assigned female gender so far, even in fully expressed in virilised external genitalia. This dogmatic approach is based on preserving fertility, and if there was at least uterus, opting for female sex was considered justified. Only about 5% of 46 patients with XX KAH has a psychogenic male gender, as described patient. In addition to mutations of CYP21A2 and effects of high concentration of androgen in the CAH, in the phenotypic expression of CAH different length of sequence of CAG androgen receptor could have an impact, which modulates the effect of androgens on the periphery. Also, while the cases of adaptation of sexual identity and the external genitalia from female to male were documented, not a single case of questionable male sexual identity is noted. In the presented patient testosterone levels are at the upper limit for men, which may be due to enzymatic block and synthesis of cortisol precursor, which is further metabolized to the active androgen: testosterone and dihydrotestosterone. High concentrations of T prenatally and in infancy has led to premature fusion epiphysis and low growth, and high concentrations of DHT to clitoromegaly. The LHRH test showed no stimulatory response of LH, which is probably suppressed by high concentrations of testosterone , but there still needs to be done endocraniaol MNR to rule out other possible etiologies of gonadotroph suppression. Dexamethasone suppression test with measurement of testosterone could give an answer. The treatment of adult patients is based on hydrocortisone in dosages that provide permanent substitution of cortisol and suppress ACTH hypersecretion. In 46 XX patients who are phenotypically male, and whose full identity is male, reconstructive surgical procedures are needed to enable adequate quality of life.

More than a half century of experience with aspiration punch of nodal changes in the thyroid gland has confirmed this procedure as a golden standard in the examination of thyroid nodal disease. Although sensitivity, specificity, reliability and reproducibility are incontestably high, this procedure cannot give a simple answer on whether the change examined is benign or malignant. Numerous attempts to improve the procedure resulted in considerably advanced findings. Besides refining the cytopathologic examination techniques, confirmation or determination of hormones, proteins and other substances in the material obtained by fine-needle aspiration are actually the greatest contribution to improvement the of procedure's diagnostic value. These markers are actually followed, in most medical centers, in aspirates of thyroid nodal changes but also surrounding lymph nodes in order to evaluate with greater certainty the type, volume and spread; this is important to establish treatment procedures and to evaluate the residual disease after accomplishing the treatment.

Efekti rane supstitucije supkliničkog hipotiroidizma na kvalitet života, biohumoralne parametre, srčanu i vaskularnu funkciju Uvod/Cilj. Supklinička hipotireoza (SCH) definiše se kao povišen TSH uz normalne vrednosti tiroksina. Podaci o efektima rane supstitucije na psihofizički status individua sa SCH nisu dovoljno konzistentni da bi podržali njeno uvodjenje. Cilj ove studije je ispitati efekat tromesečne supstitucije LT4-om na na kvalitet života, biohumoralne parametre, srčanu i vaskularnu funkciju u simptomatskoj SCH sa TSH < 10 mIU/L.Metode. Antropometrijski i klinički parametri (bolest-specifičan upitnik), kvalitet života, (Short Form-36 upitnik), biohemijski, elektro i ehokardiogtrafski parametri evaluirani su u 35 pacijenata sa perzistentnom simptomatskom SCH pre intervencije (TSH 7.0±2.1 mIU/L) i 3 meseca nakon postizanja zadovoljavajućeg kvaliteta supstitucije. Rezultati. Zabeležena je značajna redukcija telesne mase (p=0,030), sistolnog i dijastolnog krvnog pritiska (p=0,024,p=0,019), homocisteina (p

Iako postoje podaci koji povezuju tiroidnu autoimunost (TAI) i infertilitet, podaci koji se odnose na ishode vantelesne oplodnje (VTO) i markere TAI u folikularnoj tečnosti žena koje ulaze u program VTO su retki. Ciljevi studije su bili: ispitati prisustvo tiroidnih autoantitela u folikularnoj tečnosti kod pacijentkinja sa TAI, oceniti uticaj TAI na postizanje fertiliteta metodom VTO i proceniti povezanost nivoa tiroidnih autoantitela u folikularnoj tečnosti i ishoda VTO izraženog kao postignute trudnoće. Metod: Studija je uključila 52 žene koje su ušle u program VTO (26 ispitanica sa TAI i 26 ispitanica kontrolne grupe bez TAI). Krv je uzorkovana pre početka protokola za kontrolisanu ovarijalnu stimulaciju, a u serumu su merene vrednosti tireotropina (TSH), slobodnog trijodtironina (fT3), slobodnog tiroksina (fT4), antitela na tiroidnu peroksidazu (anti TPO At) i antitela na tireoglobulin (anti Tg At). U folikularnoj tečnosti su merene vrednosti TSH, fT4, anti TPO At, anti Tg At i progesterona. Rezultati: U trenutku ulaska u studiju sve pacijentkinje su bile nulipare, osim jedne koja je bila unipara. Sve pacijentkinje su imale primarni infertilitet, osim jedne sa sekundarnim infertilitetom. Prosečno trajanje infertiliteta bilo je duže u grupi pacijentkinja koje nemaju TAI (p=0,050). Naši rezultati su pokazali da su prosečne serumske vrednosti TSH (p=0,010) i fT3 (p=0,001) bile značajno više, a prosečna serumska vrednost fT4 (p=0,008) niža u TAI negativnoj grupi. TAI pozitivna grupa pacijentkinja je imala značajno više vrednosti anti TPO At i anti Tg At u serumu i folikularnoj tečnosti, u poređenju sa TAI negativnom grupom (p