Browsing by Author "Jelić, Svetlana (57206488672)"

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. © 2016, Institut za Vojnomedicinske Naucne Informacije/Documentaciju. All rights reserved.

Introduction. Juxtaglomerular cell tumor (JGCT) or reninoma is a very rare cause of curable hypertension among young people. The early diagnosis is the most important based on the clinical presentation, hormonal and radiological findings observed on computed tomography (CT) and/or magnetic resonance imaging (MRI). The final confirmation of the JGCT is the lateralization of the plasma renin activity (PRA) during the selective renal venous sampling. Case report. This report presents a typical case of young women with JGCT which was manifested for the first time with severe hypertension during the pregnancy and was the reason of fetal death. After the miscarriage, the diagnosis of JGCT was made by the CT scanning and confirmed by the selective renal venous sampling. After the partial nephrectomy, the blood pressure and serum potassium normalized without the medications. Conclusion. Reninoma should be considered in the differential diagnosis as a cause of severe hypertension in pregnancy and also should be suspected in young hipertensives (especially females) with hypokalemia and secondary hyperaldosteronism after the exclusion of other causes particularly renal artery stenosis. A dynamic contrastenhanced CT, MRI and selective renal venous sampling are the most important tools in the diagnosis of JGCT. © 2017, Institut za Vojnomedicinske Naucne Informacije/Documentaciju. All Rights Reserved.