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Testicular carcinoma in a female with 46-XY karyotype: a case report

  • Siti Nurul Hapsari ,
  • Betty Agustina ,


Background: Testicular cancer is now the most common malignancy in young males. Markers available in the management of patients with testicular cancer are alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG), and lactate dehydrogenase (LDH). Female patients with androgen insensitivity syndrome (AIS) and pure gonadal dysgenesis have a pure XY karyotype and an increased risk of developing a gonadal malignancy.

Case Description: A 26-year-old female presented with a hardened stomach and primary amenorrhoea. Physical examination revealed Tanner Stage I for both the right and left breast and no pubic or axillary hair. On local examination, there was a large firm non-tender mass extending across the abdominopelvic region. Gynecological examinations revealed normal labia; however there was clitoromegaly, the vagina was blind (5 cm) with the absent cervix. Laboratory tests with increased abnormal results were as follows: LDH 3,448 U/L, AFP 1,842.6 ng/mL, Cortisol 22.41 ug/dL and Testosterone 128.7 ng/dL. An MSCT of the abdomen showed a solid mass with no signs of a vagina or uterus. Blood karyotyping results were 46 XY with the presence of the SRY gene. Due to an increase in LDH, AFP, Cortisol and Testosterone, with 46 XY karyotyping, Tanner stage 1 breasts, pubic and axillary hair, female genitalia phenotype and abdominal MSCT showing a solid mass with no signs of vagina and uterus, this patient was diagnosed with non seminoma testicular cancer with widespread disease and 46, XY karyotype (male).

Conclusion: Testicular cancer is common in patients with gonadal dysgenesis, due to an increase in malignancy risk.


  1. Manecksha RP, Fitzpatrick JM. Epidemiology of testicular cancer. BJU Int. 2009; 104(9 Pt B):1329-33
  2. Milose JC, Filson CP, Weizer AZ, Hafez KS, Montgomery JS. Role of biochemical markers in testicular cancer: diagnosis, staging, and surveillance. Open Access J Urol. 2011; 30:4:1-8
  3. Jung EJ, Im DH, Park YH, Byun JM, Kim YN, Jeong DH et al. Female with 46, XY karyotype. Obstet Gynecol Sci. 2017; 60(4):378 – 382.
  4. Jorgensen PB, Kjantansdottir KR, Fedder J. Care of women with XY karyotype: a clinical practice guideline. Fertil Steril. 2010; 94(1):105-13
  5. Salehi LB, Scarciolla O, Vanni GF, Nardone AM, Frajese G, Novelli G, Stuppia L. Identification of a novel mutation in the SRY gene in a 46, XY female patient. Eur J Med Genet. 2006; 49(6):494-8
  6. Rasalkar DD, Paunipagar BK, Ng A, Lai FM, Bagaria SJ. Intra-Abdominal Testiculr Seminoma in a Woman with Testicular Feminization Syndrome. 2011. Case Rep Radiol. 2011; 2011:592124
  7. Emmanuel M, Bokor BR. Tanner Stages. [Updated 2019 Jan 19]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2018 Jan-. Available from:
  8. Mannaerts D, Muys J, Blaumeiser B, Jacquemyn Y. A rare cause of primary amenorrhoea, the XY female with gonadal dysgenesis. BMJ Case Rep. 2015; 2015: bcr2014206609.
  9. Sorensen SS, Mosgaard BJ. Combination of Cancer Antigen 125 and Carcinoembryonic antigen (CEA) can improve ovarian Cancer Diagnosis. Dan Med Bull. 2011; 58(11):A4331

How to Cite

Hapsari, S. N., & Agustina, B. (2019). Testicular carcinoma in a female with 46-XY karyotype: a case report. Bali Medical Journal, 8(2), 495–498.




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