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    Coexistence of Ovarian Granulose Cell Tumor, Congenital Adrenal Hyperplasia, and Triple Translocation: Is a Consequence or Coincidence?
    (SPRINGER, 2020) Akbulut, Sami; Ceylan, Senay Durmaz; Tuncali, Timur; Sogutcu, Nilgun
    Purpose 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.
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    Öğe
    Non-functioning adrenal incidentalomas may increase toxic metabolites
    (Springer Wien, 2022) Karahan, Irfan; Ceylan, Senay Durmaz; Gungunes, Askin; Cifci, Aydin; Eker, Fatih; Kisa, Ucler
    Background Non-functioning adrenal incidentaloma (NFAI) is a frequent diagnosis with increasing radiological tests. The emerging shreds of evidence showed that they might have negative cardiometabolic effects. The study aimed to investigate whether the toxic metabolites, asymmetric dimethylarginine (ADMA) levels, were altered in NFAI patients. Methods We included 43 NFAI patients and 41 controls with similar ages and body mass indices in the study. We compared plasma ADMA levels of both groups and noted the radiological features of NFAIs. Results The ADMA levels were significantly higher in NFAI patients than in the control group (307.04 ng/ml, range 81.89-577.7 ng/ml vs 192.54 ng/ml, range 70.61-440.26 ng/ml, p = 0.001). Nevertheless, we could not reach a significant correlation between ADMA levels and mass size. Conclusion The ADMA is known as a toxin and is increased in NFAI patients. NFAIs may not be innocent and may be considered a potential risk for the body. Further investigations were needed for more explanations.