Skip to main content
SpringerLink
Log in

Delayed Diagnosis of Swyer Syndrome with Mixed Germ Cell Tumour: "A Stitch in Time Saves Nine" Always Holds True

  • Case report
  • Published:
Indian Journal of Gynecologic Oncology Aims and scope Submit manuscript

Abstract

Swyer syndrome is a disorder of sexual development (DSD) where affected persons have XY chromosomal makeup but have female internal genitalia. We report a 25-year-old married woman who presented with incomplete staging for ovarian mass and primary amenorrhea. Tanner breast stage was 3. Both pubic and axillary hairs were absent. The cervix and uterus were atrophic. Karyotyping was suggestive of 46 XY (Swyer Syndrome) and due to advanced disease she underwent chemotherapy for mixed germ cell tumour followed by completion surgery which included removal of dysgenetic gonads. This case report highlights the importance of proper evaluation of girls presenting with primary amenorrhea which includes karyotyping. Timely identification of these cases would prevent gonadal cancer by performing bilateral gonadectomy at initial diagnosis.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3
Fig. 4

Similar content being viewed by others

References

  1. Hétu V, Caron E, Francoeur D. Hypoplastic uterus and clitoris enlargement in Swyer syndrome. J Pediatr Adolesc Gynecol. 2010;23(1):e43–5.

    Article  PubMed  Google Scholar 

  2. Michala L, Goswami D, Creighton SM, Conway GS. Swyer syndrome: presentation and outcomes. BJOG: Int J Obstet Gynaecol. 2008;115(6):737–41.

    Article  CAS  Google Scholar 

  3. Gupta A, Bajaj R, Jindal UN. A rare case of Swyer syndrome in two sisters with successful pregnancy outcome in both. J Hum Reprod Sci. 2019;12(3):267.

    Article  PubMed  PubMed Central  Google Scholar 

  4. Priya PK, Mishra VV, Choudhary S, Rizvi JS. A case of primary amenorrhea with swyer syndrome. J Hum Reprod Sci. 2017;10(4):310.

    Article  PubMed  PubMed Central  Google Scholar 

  5. Trainavičius I, Dasevičius D, Burnytė B, Kemežys R, Verkauskas G. Early bilateral gonadoblastoma in a patient with mixed gonadal dysgenesis (Karyotype 45, X/46, XY): case report and review of literature. Acta medica Lituanica. 2022;29(2):194.

    Article  PubMed  PubMed Central  Google Scholar 

  6. Bumbulienė Ž, Varytė G, Geimanaitė L. Dysgerminoma in a prepubertal girl with complete 46XY gonadal dysgenesis: case report and review of the literature. J Pediatr Adolesc Gynecol. 2020;33(5):599–601.

    Article  PubMed  Google Scholar 

  7. Klein DA, Paradise SL, Reeder RM. Amenorrhea: a systematic approach to diagnosis and management. Am Fam Physician. 2019;100(1):39–48.

    PubMed  Google Scholar 

  8. Ray U, Adhikari S, Dhital R, Shrestha S, Shah S, Poudel S, Sah SK, Gami R, Adhikari A, Gautam B. Mayer-Rokitansky-Kuster-Hauser syndrome: a rare case report from Nepal. Ann Med Surg. 2022;1(82): 104725.

    Google Scholar 

  9. Guo M, Huang JC, Li CF, Liu YY. Complete androgen insensitivity syndrome: a case report and literature review. J Int Med Res. 2023;51(2):03000605231154413.

    Article  PubMed  PubMed Central  Google Scholar 

  10. Han LH, Wang L, Wu XY. 17 alpha-hydroxylase deficiency: a case report of young Chinese woman with a rare gene mutation. Clin Case Rep. 2022;10(7): e6109.

    Article  PubMed  PubMed Central  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Gynaecological Oncology, Dr B.Borooah Cancer Institute, Guwahati, India

    Upasana Baruah, Debabrata Barmon, Dimpy Begum & Karthik Chandra Bassetty

  2. Department of Oncopathology, Dr B.Borooah Cancer Institute, Guwahati, India

    Sakshi Gupta

Authors
  1. Upasana Baruah
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Sakshi Gupta
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Debabrata Barmon
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Dimpy Begum
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Karthik Chandra Bassetty
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Karthik Chandra Bassetty.

Ethics declarations

Conflict of interest

There are no financial or non-financial interests that are directly or indirectly related to the work submitted for publication. There is no conflict of interest.

Ethical Approval

Our Institution does not require ethical approval for reporting individual case reports or case series.

Informed Consent

The authors certify that they have obtained the appropriate patient's consent. The patient has given consent for her images and medical records to be reported in the journal with the concealment of name. We also have made due efforts to conceal her identity through the use of a censor bar.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Baruah, U., Gupta, S., Barmon, D. et al. Delayed Diagnosis of Swyer Syndrome with Mixed Germ Cell Tumour: "A Stitch in Time Saves Nine" Always Holds True. Indian J Gynecol Oncolog 22, 37 (2024). https://doi.org/10.1007/s40944-024-00813-0

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • DOI: https://doi.org/10.1007/s40944-024-00813-0

Keywords

Search

Navigation