Coexisting diseases modifying each other's presentation - lack of growth failure in Turner syndrome due to the associated pituitary gigantism.

Introduction: Turner syndrome presents with one of the most frequent chromosomal aberrations in female, typically presented with growth retardation, ovarian insufficiency, facial dysmorphism, and numerous other somatic stigmata. Gigantism is an extremely rare condition resulting from an excessive growth hormone (GH) secretion that occurs during childhood before the fusion of epiphyseal growth plates. The major clinical feature of gigantism is growth acceleration, although these patients also suffer from hypogonadism and soft tissue hypertrophy. Case report: We presented a girl with mosaic Turner syndrome, delayed puberty and normal linear growth for the sex and age, due to the simultaneous GH hypersecretion by pituitary tumor. In the presented case all the typical phenotypic stigmata related to Turner syndrome were missing. Due to excessive pituitary GH secretion during the period while the epiphyseal growth plates of the long bones are still open, characteristic stagnation in longitudinal growth has not been demonstrated. The patient presented with delayed puberty and primary amenorrhea along with a sudden appearance of clinical signs of hypersomatotropinism, which were the reasons for seeking medical help at the age of 16. Conclusion: Physical examination of children presenting with delayed puberty but without growth arrest must include an overall hormonal and genetic testing even in the cases when typical clinical presentations of genetic disorder are absent. To the best of our knowledge, this is the first reported case of simultaneous presence of Turner syndrome and gigantism in the literature.

Unrecognised adrenergic symptoms and the delayed diagnosis of urinary bladder paraganglioma.

INTRODUCTION: Paraganglioma is a rare neuroendocrine neoplasm that may arise from the extra-adrenal autonomic paraganglia. Urinary bladder paraganglioma is typically presented as repeated episodes of palpitations, headache or blood pressure rise immediately after micturition. Management of these tumors includes radical surgical treatment with preoperative antihypertensive preparation, and a life-long follow-up. CASE REPORT: We presented a middle-age female patient with functional urinary bladder paraganglioma, with a 3-year history of repeated episodes of abdominal pain, dysuria and hematuria. After obtaining more precise anamnestic data, the patient reported occasional simultaneous presence of mild adrenergic symptoms, that did not cause any particular attention at first. Morphological and biohumoral examinations suggested paraganglioma of the urinary bladder. Open partial cystectomy was performed, detecting a submucosal mass, while immunohistochemical analysis confirmed the presence of chromaffin tissue. Clinical manifestations, diagnostic approach, management and histopathological findings of urinary bladder paraganglioma are discussed. CONCLUSION: Since the prognosis with localized paraganglioma is good, we underlined the importance of a well-timed, accurate and detailed medical history in all the patients with even mild, inexplicable micturition-provoked adrenergic symptomatology.

A 60-year expirience in the treatment of pancreatic insulinoma in the Military Medical Academy, Belgrade, Serbia.

BACKGROUND/AIM: Insulinomas are rare benign tumors in the most cases and the most frequent endocrine tumors of the pancreas. A wide spectrum of clinical manifestations in patients with insulinoma is the reason for difficult recognition of the disease with a long period of time between the onset of symptoms and the diagnosis. Diagnostic procedures include Whipple's triad, 72-hour fast test and topographic assessment. The only currative therapy for patients with insulinoma is operative treatment. METHODS: This retrospective study included 42 patients with diagnosis of insulinoma treated in our institution in a 60-year period. In all the patients a demographic and clinical data, types of biochemical methods for diagnosis, and diagnostic procedures for insulinoma localization were analyzed. Tumor size and localization, surgical procedures, postoperative complications and outcome were assessed. RESULTS: A study included 42 patients, 29 women and 13 men. The median age at diagnosis was 43 years. Median time between the onset of symptoms and diagnosis was 3 years. The most common clinical symptoms and signs were disturbance of consciousness and abnormal behavior in 73%, confusion and convulsions in 61% of patients. The diagnosis of insulinoma was estimated by Whipple's triad and 72-hour fast test in 14 patients. Determination of insulinoma localization was assessed by angiography in 16 (36%) of the patients, by ultrasound (US) in 3 of 16 (18.8%) patients, by abdominal computed tomography (CT) in 8 of 18 (44.5%) patients, and magnetic resonance imaging (MRI) in 2 of 8 (25%) patients. Insulinoma was found in 13 of 13 (100%) patients by arterial stimulation with venous sampling (ASVS) and in 13 of 14 (93%) patients by endoscopic ultrasound (EUS). Of the 42 patients, 38 (90.5%) underwent operative procedure. Minimal resection was performed in 28 (73.6%) of the patients [tumor enucleation in 27 (71%) and central pancreatectomy in one (2.6%) of the patients], and the major resection was performed in 9 (23.6%) of the operated patients [distal splenopancreatectomy in 8 (21%) and pancreaticoduodenectomy in one (2.6%) patient]. The overall mortality rate in postoperative period was 2.6% (one patient). CONCLUSION: A combination of ASVS and EUS as diagnostic procedures ensures high accuracy for preoperative determination of insulinoma localization. Minimal resection such as enucleation shoud be performed whenever it is possible.

Orbital lymphoma associated with Graves' disease: A case report.

INTRODUCTION: The presence of bilateral exophthalmos and palpebral, periorbital edema associated with hyperthyroidism is most often considered as an initial sign of Graves' ophthalmopathy. However, in up to 20% of cases, Graves' ophthalmopathy might precede the occurence of hyperthyroidism, which is very important to be considered in the differential diagnosis, especially if it is stated as unilateral. Among other less common causes of non-thyroid-related orbitopathy, orbital lymphoma represents rare conditions. We presented of a patient with Graves' disease, initially manifested as bilateral orbitopathy and progressive unilateral exophthalmos caused by the marginal zone B-cell non-Hodgkin lymphoma of the orbit. CASE REPORT: A 64-year-old man with the 3-year history of bilateral Graves' orbitopathy and hyperthyroidism underwent the left orbital decompression surgery due to the predominantly left, unilateral worsening of exophthalmos resistant to the previously applied glucocorticoid therapy. A year after the surgical treatment, a substantial exophthalmos of the left eye was again observed, signifying that other non-thyroid pathology could be involved. Orbital ultrasound was suggestive of primary orbital lymphoma, what was confirmed by orbital CT scan and the biopsy of the tumor tissue. Detailed examinations indicated that the marginal zone B-cell non-Hodgkin lymphoma extended to IV - B-b CS, IPI 3 (bone marrow infiltration: m+ orbit+). Upon the completion of the polychemiotherapy and the radiation treatment, a complete remission of the disease was achieved. CONCLUSION: Even when elements clearly indicate the presence of thyroid-related ophthalmopathy, disease deteriorating should raise a suspicion and always lead to imaging procedures to exclude malignancy.

Possibilities of nontoxic autonomous thyroid nodules treatment by percutaneous ethanol injection.

BACKGROUND/AIM: According to the current principles, autonomous functional thyroid nodules are treated by surgery or by radioiodin therapy. Ultrasound guided percutaneous ethanol injection into solid tumors of the soft tissues was a starting point in attempts to treat the thyroid nodules by the same method. The aim of the study was to assess the efficiency of percutaneous injection in treating solitary, nontoxic, autonomous thyroid nodules of up to 15 mL volume. METHODS: In 25 patients with solitary nontoxic autonomous thyroid nodules diagnosed by tehnetium-99m scanning as an intensive area having a complete supremacy in the paranodal tissue, an ultrasound guided percutaneous ethanol injection was applied. The procedure was carried out repeatedly once a week until the reduction in nodule size to 50% of the initial size was achieved. RESULTS: An average size of the nodule before curing was 9.68 +/- 5.01 mL. An average quantity of the injected ethanol was 9.52 +/- 5.08 mL, ie 1.06 +/- 0.48 mL/mg of the tissue. The regression of the nodule size in the successfully (deltavol% u -57.09 +/- 13.75%, p < 0.001) and partly successfully cured (deltavol du = -48.45 +/- 14.35%, p < 0.05) was statistically significant compared to the size before the treatment. After ceasing ethanol injection, 18 months later, a further size regression (deltavol% = -79.20 +/- 9.89%) compared to the initial one (p < 0.001) was noticed. Soon, after the procedure was finished, a statistically significant concentration increase of Thyroid Stimulating Hormone (TSH) was noticed compared to the initial values (0.18 +/- 0.16 vs 0.34 +/- 0.31 mU/L, p < 0.01). According to the given criteria, in two female patients satisfactory results were not achieved, but, a year later, in one of them the nodule was not seen by repeated scintigram. The number and frequency of side effects were insignificant. CONCLUSION: Repeated percutaneous ethanol injections into nontoxic solitary autonomous thyroid nodules result in disappearing of authonomy. The regression of the nodule size of more than 50% compared to its initial volume, as well as the increase in concentration of TSH for more than 50% are the signs of a successful treatment.