Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2021 Mar 28;15(1):165.
doi: 10.1186/s13256-021-02758-w.

Chance diagnosis of mixed gonadal dysgenesis in an adult case of malignant gonadal germ cell tumor: a case report

Yoshiko Kurose  1 , Tomonori Nagai  2 , Kousuke Shigematsu  2 , Takahiro Uotani  2 , Taichi Akahori  2 , Yasushi Takai  2 , Hiroyuki Seki  2
Affiliations
Case Reports

Chance diagnosis of mixed gonadal dysgenesis in an adult case of malignant gonadal germ cell tumor: a case report

Yoshiko Kurose et al. J Med Case Rep. .

Abstract

Background: Mixed gonadal dysgenesis (MGD) is a subtype of the disorders of sex development (DSD) associated with sex chromosome abnormalities characterized by abnormal external genitalia, short stature, and primary amenorrhea. This disease is generally diagnosed from the neonatal stage to early childhood, and by puberty at the latest. Cases that are phenotypically female or those with ambiguous genitalia experience a high risk of gonadal tumor formation. As tumor risk is known to increase with age, prophylactic bilateral gonadectomy is recommended following early diagnosis.

Case presentation: Here we report a case of an adult Japanese woman diagnosed with MGD during treatment for a giant pelvic tumor. The patient initially visited a gynecology clinic during puberty for primary amenorrhea, at which time an abnormality was found with the external genitalia. However, a diagnosis of MGD was not made at this time, resulting in the development of a malignant gonadal germ cell tumor in adulthood.

Conclusions: For early diagnosis of MGD and the prevention of gonadal tumor formation, it is essential that gynecologists fully understand MGD and other DSD.

Keywords: 45,X/46,XY mosaicism; Case report; Disorders of sex development; Gonadal tumor; Mixed gonadal dysgenesis; Primary amenorrhea.

PubMed Disclaimer

Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
External genital abnormalities: clitoral hypertrophy and narrowing of the vaginal opening
Fig. 2
Fig. 2
Magnetic resonance imaging findings (T2-weighted image): pelvic tumor with a mixture of solid and cystic components (arrow)
Fig. 3
Fig. 3
a, b Intraoperative findings (initial surgery): pelvic tumor, fallopian tube infiltration, and atrophy of the uterus
Fig. 4
Fig. 4
Tumor pathology findings (initial surgery): recognized "two-cell pattern" with tumor cells and lymphocyte infiltration (arrow)
Fig. 5
Fig. 5
Clinical course table: elevated lactate dehydrogenase and beta-human chorionic gonadotropin rapidly declined after the start of bleomycin, etoposide, and cisplatin (BEP) therapy
Fig. 6
Fig. 6
a, b Intraoperative findings (second surgery): pelvic tumor reduced by chemotherapy, and atrophy of the uterus, fallopian tubes, and streak gonad
Fig. 7
Fig. 7
Macroscopic image of excised specimen (second surgery): tumor exhibiting uniform yellowish-white color and conspicuous necrosis inside the tumor
See this image and copyright information in PMC

References

    1. Kubota M, Terada N, Ito K, et al. A 45, X/46, XY male with orchidopexy diagnosed with mixed germ cell tumor after 21-year follow-up. Urol Case Rep. 2017;13:120–122. doi: 10.1016/j.eucr.2017.04.001. - DOI - PMC - PubMed
    1. Makhija D, Shah H, Tiwari C, et al. Mixed gonadal dysgenesis with an unusual "inverted" Y chromosome. Dev Period Med. 2016;20(3):178–180. - PubMed
    1. Abaci A, Catli G, Berberoglu M. Gonadal malignancy risk and prophylactic gonadectomy in disorders of sexual development. J Pediatr Endocrinol Metab. 2015;28(9–10):1019–1027. doi: 10.1515/jpem-2014-0522. - DOI - PubMed
    1. Berberoglu M, Siklar Z. Ankara University Dsd ethic committee, the evaluation of cases with Y-chromosome gonadal dysgenesis: clinical experience over 18 years. J Clin Res Pediatr Endocrinol. 2018;10(1):30–37. doi: 10.4274/jcrpe.4826. - DOI - PMC - PubMed
    1. Huang YC, Lee CT, Wu MZ, et al. The spectrum of 45, X/46, XY mosaicism in Taiwanese children: the experience of a single center. J Formos Med Assoc. 2019;118(1 Pt 3):450–456. doi: 10.1016/j.jfma.2018.07.003. - DOI - PubMed

Publication types

LinkOut - more resources