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.
C1 [Akbulut, Sami] Inonu Univ, Fac Med, Dept Surg, Elazig Yolu 10 Km, TR-44280 Malatya, Turkey.
[Akbulut, Sami] Inonu Univ, Fac Med, Liver Transplant Inst, Elazig Yolu 10 Km, TR-44280 Malatya, Turkey.
[Ceylan, Senay Durmaz] Kirikkale Univ, Dept Endocrinol, Fac Med, TR-71450 Kirikkale, Turkey.
[Tuncali, Timur] Ankara Univ, Dept Genet, Fac Med, TR-06100 Ankara, Turkey.
[Sogutcu, Nilgun] Diyarbakir Educ & Res Hosp, Dept Pathol, TR-21400 Diyarbakir, Turkey.