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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Fei Hong / Toppari, Jorma / Turan, Serap Demircioglu


IMPACT FACTOR 2018: 1.239

CiteScore 2018: 1.22

SCImago Journal Rank (SJR) 2018: 0.507
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2191-0251
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Volume 28, Issue 5-6

Issues

Ovarian carcinoma in a 14-year-old with classical salt-wasting congenital adrenal hyperplasia and bilateral adrenalectomy

Christian Pina
  • Corresponding author
  • Division of Adrenal Steroid Disorders, Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA
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/ Ahmed Khattab
  • Division of Adrenal Steroid Disorders, Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA
  • Other articles by this author:
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/ Philip Katzman / Lauren Bruckner / Jeffrey Andolina / Maria New
  • Division of Adrenal Steroid Disorders, Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA
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/ Mabel Yau
  • Corresponding author
  • Division of Adrenal Steroid Disorders, Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA
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  • Other articles by this author:
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Published Online: 2014-11-26 | DOI: https://doi.org/10.1515/jpem-2014-0299

Abstract

A 14-year-old female with classical congenital adrenal hyperplasia because of 21-hydroxylase deficiency underwent bilateral adrenalectomy at 6 years of age as a result of poor hormonal control. Because the patient was adrenalectomized, extra adrenal androgen production was suspected. Imaging studies including pelvic ultrasound and pelvic magnetic resonance imaging (MRI) were obtained to evaluate for adrenal rest tumors of the ovaries. Abdominal MRI was obtained to evaluate for residual adrenal tissue. A cystic lesion arising from her right ovary suspicious for ovarian neoplasm was noted on pelvic MRI. Right salpingo-oophorectomy was performed and histopathological examination revealed ovarian serous adenocarcinoma, low-grade, and well-differentiated. Tumor marker CA-125 was elevated and additional ovarian cancer staging workup confirmed stage IIIC due to one lymph node positive for carcinoma. The patient then developed a large left ovarian cyst, which led to a complete total abdominal hysterectomy and removal of the left ovary and fallopian tube. Pathology confirmed ovarian serous adenocarcinoma with microscopic focus of carcinoma in the left ovary. After numerous complications, the patient responded well to chemotherapy, CA-125 levels fell and no evidence of carcinoma was observed on subsequent imaging. To our knowledge, this is the first reported case of an ovarian serous adenocarcinoma in a patient with CAH. Although rare, we propose that the ovaries were the origin of androgen production and not residual adrenal tissue. The relationship between CAH and ovarian carcinomas has yet to be established, but further evaluation is needed given the poor survival rate of high-grade serous ovarian carcinoma.

Keywords: ovarian adrenal rest tumors; ovarian serous adenocarcinoma

References

  • 1.

    New MI, Lekarev O, Mancenido D, Parsa A, Yuen T. Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. In: New MI, Lekarev O, Parsa A, Yuen T, O’Malley BW, Hammer GD, editors. Genetic steroid disorders. London, UK: Elsevier, 2014: 29–51.Google Scholar

  • 2.

    Pang SY, Wallace MA, Hofman L, Thuline HC, Dorche C, et al. Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics 1988;81:866–74.PubMedGoogle Scholar

  • 3.

    New MI, Abraham M, Gonzalez B, Dumic M, Razzaghy-Azar M, et al. Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Proc Natl Acad Sci USA 2013;110:2611–6.Google Scholar

  • 4.

    Speiser PW, Dupont B, Rubinstein P, Piazza A, Kastelan A, et al. High frequency of nonclassical steroid 21-hydroxylase deficiency. Am J Genet 1985;37:650–67.Google Scholar

  • 5.

    Haider S, Islam B, D’Atri V, Sgobba M, Poojari C, et al. Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia. Proc Natl Acad Sci USA 2013;110:2605–10.CrossrefGoogle Scholar

  • 6.

    Zhang M, Jiang W, Li G, Xu C. Ovarian masses in children and adolescents – an analysis of 521 clinical cases. J Pediatr Adolesc Gynecol 2014;27:e73–7.PubMedGoogle Scholar

  • 7.

    Fernández-García Salazar R, Muñoz-Darias C, Jesús Haro Mora J, Almaraz MC, Audí L, et al. Woman with virilizing congenital adrenal hyperplasia and leydig cell tumor of the ovary. Gynecol Endocrinol 2014;30:549–52.CrossrefGoogle Scholar

  • 8.

    Kamata Y, Hayashi A, Ogawa A, Ichikawa R, Moriya T, et al. A woman with salt-wasting congenital adrenal hyperplasia presenting with a mucinous ovarian cystadenoma during pregnancy. Intern Med 2011;50:1981–5.Web of ScienceCrossrefPubMedGoogle Scholar

  • 9.

    Bast RC Jr, Xu FJ, Yu YH, Barnhill S, Zhang Z, et al. CA 125: the past and the future. Int J Biol Markers 1998;13:179–87.Google Scholar

  • 10.

    Risch HA, McLaughlin JR, Cole DE, Rosen B, Bradley L, et al. Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada. J Natl Cancer Inst 2006;98:1694–706.CrossrefGoogle Scholar

  • 11.

    Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 2003;72:1117–30.CrossrefGoogle Scholar

  • 12.

    Katsumata N, Yasuda M, Takahashi F, Isonishi S, Jobo T, et al. Dose-dense paclitaxel once a week in combination with carboplatin every 3 weeks for advanced ovarian cancer: a phase 3, open-label, randomised controlled trial. Lancet 2009;374:1331–8.Web of ScienceGoogle Scholar

  • 13.

    Crocker MK, Barak S, Millo CM, Beall SA, Niyyati M, et al. Use of PET/CT with cosyntropin stimulation to identify and localize adrenal rest tissue following adrenalectomy in a woman with congenital adrenal hyperplasia. J Clin Endocrinol Metab 2012;97:E2084–9.Web of ScienceCrossrefGoogle Scholar

  • 14.

    Martinez-Aguayo A, Rocha A, Rojas N, García C, Parra R, et al. Testicular adrenal rest tumor and Leydig and Sertoli cell function in boys with classical congenital adrenal hyperplasia. J Clin Endocrinol Metab 2007;92:4583–9.Web of ScienceCrossrefGoogle Scholar

  • 15.

    Stikkelbroeck NM, Hermus AR, Schouten D, Suliman HM, Jager GJ, et al. Prevalence of ovarian adrenal rest tumours and polycystic ovaries in females with congenital adrenal hyperplasia: results of ultrasonography and MR imaging. 2004;14:1802–6.Google Scholar

  • 16.

    Russo G, Paesano P, Taccagni G, Del Maschio A, Chiumello G. Ovarian adrenal-like tissue in congenital adrenal hyperplasia. N Engl J Med 1998;339:853–4.Google Scholar

  • 17.

    Luton JP, Clerc J, Paoli V, Bonnin A, Dumez Y, et al. Bilateral Leydig cell tumor of the ovary in a woman with congenital adrenal hyperplasia. The first reported case. Presse Med 1991;20:109–12.Google Scholar

  • 18.

    Tiosano D, Vlodavsky E, Filmar S, Weiner Z, Goldsher D, et al. Ovarian adrenal rest tumor in a congenital adrenal hyperplasia patient with adrenocorticotropin hypersecretion following adrenalectomy. Horm Res Paediatr 2010;74:223–8.CrossrefWeb of ScienceGoogle Scholar

  • 19.

    Zaarour MG, Atallah DM, Trak-Smayra VE, Halaby GH. Bilateral ovary adrenal rest tumor in a congenital adrenal hyperplasia following adrenalectomy. Endocr Pract 2014;20:e69–74.Web of ScienceCrossrefGoogle Scholar

  • 20.

    Motlik K, Zuntoya A. Gonocytoma – disgerminoma and gonadoblastoma. (Ovarian neoplasms in children and adolescents)]. Cesk Patol 1973;9:14–23.PubMedGoogle Scholar

  • 21.

    Güran T, Yeşil G, Güran Ö, Cesur S, Bosnalı O, et al. A giant ovarian cyst in a neonate with classical 21-hydroxylase deficiency with very high testosterone levels demonstrating a high-dose hook effect. J Clin Res Pediatr Endocrinol 2012;4:151–3.CrossrefWeb of ScienceGoogle Scholar

  • 22.

    Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab 2010;95:4133–60.Google Scholar

  • 23.

    SEER cancer statistics review, 1975–2004. In: Reis LA, Melbert D, Krapcho M, et al., editors. Bethesda, MD: National Cancer Institute, 2007.Google Scholar

  • 24.

    Suzuki T, Ino K, Kikkawa F, Shibata K, Kajiyama H, et al. Cushing’s syndrome due to ovarian serous adenocarcinoma secreting multiple endocrine substances: a case report and immunohistochemical analysis. Gynecol Oncol 2003;90: 662–6.CrossrefGoogle Scholar

  • 25.

    Risch HA. Hormonal etiology of epithelial ovarian cancer, with a hypothesis concerning the role of androgens and progesterone. J Natl Cancer Inst 1998;90:1774–86.CrossrefPubMedGoogle Scholar

  • 26.

    Helzlsouer KJ, Alberg AJ, Gordon GB, Longcope C, Bush TL, et al. Serum gonadotropins and steroid hormones and the development of ovarian cancer. J Am Med Assoc 1995;274:1926–30.Google Scholar

  • 27.

    Lukanova A, Lundin E, Akhmedkhanov A, Micheli A, Rinaldi S, et al. Circulating levels of sex steroid hormones and risk of ovarian cancer. Int J Cancer 2003;104:636–42.CrossrefGoogle Scholar

  • 28.

    Rinaldi S, Dossus L, Lukanova A, Peeters PH, Allen NE, et al. Endogenous androgens and risk of epithelial ovarian cancer: results from the European Prospective Investigation into Cancer and Nutrition (EPIC). Cancer Epidemiol Biomarkers Prev 2007;16:23–9.CrossrefWeb of ScienceGoogle Scholar

  • 29.

    Tworoger SS, Lee IM, Buring JE, Hankinson SE. Plasma androgen concentrations and risk of incident ovarian cancer. Am J Epidemiol 2008;167:211–8.Web of ScienceGoogle Scholar

  • 30.

    Olsen CM, Green AC, Nagle CM, Jordan SJ, Whiteman DC, et al. Epithelial ovarian cancer: testing the ‘androgens hypothesis’. Endocr Relat Cancer 2008;15:1061–8.Web of SciencePubMedCrossrefGoogle Scholar

  • 31.

    Olsen CM, Green AC, Whiteman DC, Sadeghi S, Kolahdooz F, et al. Obesity and the risk of epithelial ovarian cancer: a systematic review and meta-analysis. Eur J Cancer 2007;43:690–709.PubMedCrossrefGoogle Scholar

  • 32.

    Jemal A, Bray F, Center MM, Ferlay J, Ward E, et al. Global cancer statistics. CA Cancer J Clin. 2011;61:69–90.CrossrefGoogle Scholar

  • 33.

    Li J, Fadare O, Xiang L, Kong B, Zheng W. Ovarian serous carcinoma: recent concepts on its origin and carcinogenesis. J Hematol Oncol 2012;5:8.Web of SciencePubMedCrossrefGoogle Scholar

About the article

Corresponding authors: Christian E. Pina and Mabel Yau, Division of Adrenal Steroid Disorders, Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA, Phone: +1-212-241-7847, E-mail: ,


Received: 2014-06-03

Accepted: 2014-09-26

Published Online: 2014-11-26

Published in Print: 2015-05-01


Citation Information: Journal of Pediatric Endocrinology and Metabolism, Volume 28, Issue 5-6, Pages 663–667, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2014-0299.

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