Abstract

Objective(s): the aim of the study is to present large pelvic mass as the first sigh of genetic disorder in adolescent Study Design: We report a case of 17-year-old, who suffer from pelvic pain. During examination a large 24 × 12 cm pelvic mass was discovered. In the suspicion of malignant tumor initially median laparotomy approach was chosen. Laparotomy showed a tumor in right ovary and very narrow strand of grey mass in a location of the left ovary. Right salpingo-oophorectomy was performed. Histopathological analysis revealed mucinous cystadenoma. Patient also complained of amenorrhea, therefore hormone analysis was performed: E2 (pmol/l) <37, FSH (U/l) – 90,8, LH (U/l) – 31,82. Results: Hypergonadotropic amenorrhea and laparoscopic findings raised suspicion of chromosome anomaly. Karyotype analysis showed XY genotype without mutations in SRY gene. Following laparoscopic left adnexectomy and histopathological analysis showed normal tissue without any malignancy. Conclusion(s): The majority ofovarian tumors are of germ cellorigin with excellent long-term prognosis even in advanced stages, therefore without a fear of prolonging the diagnostic process, we propose an initial genetic testing prior surgical intervention of children and adolescents with abnormal ovarian masses. Disclosure: Work supported by industry: no.

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