46XX pure gonadal dysgenesis with dysgerminoma along with leydig cells: a unique presentation

Authors

  • Apoorva Tak Department of Obstetrics and Gynecology, AIIMS, Jodhpur, Rajasthan, India
  • Pratibha Singh Department of Obstetrics and Gynecology, AIIMS, Jodhpur, Rajasthan, India
  • Garima Yadav Department of Obstetrics and Gynecology, AIIMS, Jodhpur, Rajasthan, India
  • Meenakshi Rao Department of Pathology, AIIMS, Jodhpur, Rajasthan, India

DOI:

https://doi.org/10.18203/2320-1770.ijrcog20202361

Keywords:

46XX gonadal dysgenesis, Leydig cells, Streak ovary, Y chromosome

Abstract

Authors report a unique case of 46XX gonadal dysgenesis, with dysgerminoma in one ovary and other streak ovary with hilar nests of leydig cells. It is exceptionally rare to find dysgerminoma in a dysgenetic gonad with no Y chromosome and so is the presence of leydig cells in the contralateral streak ovary in a patient with 46XX pure gonadal dysgenesis.

References

McDonough PG, Byrd JR, Tho PT, Mahesh VB. Phenotypic and cytogenetic findings in eighty-two patients with ovarian failure-changing trends. Fertil Steril. 1977;28(6):638-41.

Troche VL, Hernandez EN. Neoplasia arising in dysgenetic gonads. Obstet Gynecol Surv. 1986;41(2):74-9.

Rasmussen O, Ives J, Carlan SJ. Ultrasound of a patient with gonadal dysgenesis and mixed malignant germ cell tumor. J Diag Med Sonograph. 2002;18(3):150-3.

Ghirardini G, La Sala G. The unilateral streak gonad syndrome (Slotnick-Goldfarb syndrome). Eu J Obstet Gynecol Reprod Biol. 1981;12(5):287-95.

Kanagal DV, Kishan Prasad AR, Kumar RG, Cherian S, Shetty H, Shetty PK. Ovarian gonadoblastoma with dysgerminoma in a young girl with 46XX karyotype: a case report. J Clin Diag Res. 2013;7(9):2021.

Berek JS. Berek and Novak's gynecology. Lippincott Williams and Wilkins; 2019.

Kulkarni MM, Khandeparkar SG, Joshi AR, Bhayekar PV. Unilateral gonadoblastoma with dysgerminoma in normal fertile woman having a child: extremely rare occurrence with characteristic immunohistomorphology. Indian J Pathol Microbiol. 2016;59(4):527.

Esin S, Baser E, Kucukozkan T, Magden HA. Ovarian gonadoblastoma with dysgerminoma in a 15-year-old girl with 46XX karyotype: case report and review of the literature. Arch Gynecol Obstet. 2012;285(2):447-51.

Taylor HS, Pal L, Sell E. Speroff's clinical gynecologic endocrinology and infertility. Lippincott Williams and Wilkins; 2019.

Sushma Bharti MD, Sisodia SM, Ali Z. Bilateral gonadoblastoma with extensive calcification in 46 XX karyotype female-a rare case report. J Med Sci Clin Res. 2018;6(9):942-4.

Marrakchi A, Belhaj L, Boussouf H, Chraibi A, Kadiri A. Pure gonadal dysgenesis XX and XY: observations in fifteen patients. In Ann D'endocrinol. 2005;66(6):553-6.

Namavar-Jahromi B, Mohit M, Kumar PV. Familial dysgerminoma associated with 46, XX pure gonadal dysgenesis. Saudi Med J. 2005;26(5):872-4.

Kohmanaee S, Dalili S, Rad AH. Pure gonadal dysgenesis (46 XX type) with a familial pattern. Adv Biomed Res. 2015;4:162.

Maeyama M, Kagami T, Miyakawa I, Tooya T, Kawasaki N, Iwamasa T. Case report of dysgerminoma in a patient with 46, XX pure gonadal dysgenesis. Gynecol Oncol. 1983;16(3):405-13.

Downloads

Published

2020-05-27

Issue

Section

Case Reports