Coexistence of Ovarian Granulose Cell Tumor, Congenital Adrenal Hyperplasia, and Triple Translocation: Is a Consequence or Coincidence?

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dc.authoridAkbulut, Sami/0000-0002-6864-7711
dc.authoridTUNCALI, TIMUR/0000-0003-3600-8701
dc.authorwosidTUNCALI, TIMUR/AAQ-2817-2020
dc.authorwosidAkbulut, Sami/L-9568-2014
dc.contributor.authorAkbulut, Sami
dc.contributor.authorCeylan, Senay Durmaz
dc.contributor.authorTuncali, Timur
dc.contributor.authorSogutcu, Nilgun
dc.date.accessioned2024-08-04T20:47:17Z
dc.date.available2024-08-04T20:47:17Z
dc.date.issued2021
dc.departmentİnönü Üniversitesien_US
dc.description.abstractPurpose Congenital adrenal hyperplasia (CAH) is rare autosomal recessive disease. CAH due to 21-hydroxylase deficiency accounts for 95% of cases. We aimed to share the first case of coexistence of simple virilizing-type congenital adrenal hyperplasia [I172N mutation in the CYP21A], triple translocation [t(9;11;12)], and ovarian granulose cell tumor. Methods A 59-year-old female patient was presented to our clinic, complaining with abdominal pain and distension. Physical examination revealed palpable abdominal mass, virilism, ambiguous genitalia, clitoramegaly, and hyperpigmentation. Contrast-enhanced abdominal computed tomography showed a giant mass originating from the right tubo-ovarian structure. Results The patient was operated in the light of the clinico-radiological features mentioned above. A giant mass weighing 3500 g was detected on the right tubo-ovarian structure during laparotomy, and mass was excised with right tubo-ovarian structure. Immunohistochemical examination revealed ovarian granulosa cell tumor. The high serum concentration of 17-OH progesterone was measured at baseline and after 250-mu g bolus of synthetic ACTH. In genetic analysis, we screened for six-point mutations, large deletions, and non-common mutations using restriction fragment length polymorphism (RFLP) methods, PCR, and sequencing of CYP21 gene respectively. The patient was detected to be homozygous for the I172N mutation. In addition, 50% of the metaphases examined had triple translocation [t(9;11;12)]. Conclusion The coexistence of congenital adrenal hyperplasia, triple chromosomal translocations, and ovarian granulosa cell tumor has not been described previously. This coexistence may be a sign of a new syndrome.en_US
dc.identifier.doi10.1007/s12029-020-00408-w
dc.identifier.endpage514en_US
dc.identifier.issn1941-6628
dc.identifier.issn1941-6636
dc.identifier.issue2en_US
dc.identifier.pmid32388791en_US
dc.identifier.scopus2-s2.0-85084482541en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage508en_US
dc.identifier.urihttps://doi.org/10.1007/s12029-020-00408-w
dc.identifier.urihttps://hdl.handle.net/11616/99278
dc.identifier.volume52en_US
dc.identifier.wosWOS:000531194300001en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSpringeren_US
dc.relation.ispartofJournal of Gastrointestinal Canceren_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectCongenital adrenal hyperplasiaen_US
dc.subjectSimple virilizing typeen_US
dc.subjectGranulose cell tumoren_US
dc.subjectAmbiguous genitaliaen_US
dc.subjectHyperpigmentationen_US
dc.subjectTriple translocationsen_US
dc.titleCoexistence of Ovarian Granulose Cell Tumor, Congenital Adrenal Hyperplasia, and Triple Translocation: Is a Consequence or Coincidence?en_US
dc.typeArticleen_US

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