Mixed gonadal dysgenesis with gonadoblastoma diagnosed by prophylactic laparoscopic gonadectomy: A case report

Uyama,Takuto; Koh,Iemasa; Komoshita,Tomoki; Matsushima,Ayako; Ohara,Ryo; Nomura,Arisa; Enokizono,Yuka; Sato,Yuki; Nakamoto,Kosuke; Morioka,Hirohiko; Oomori,Yuriko; Teraoka,Yuko; Nosaka,Suguru; Tomono,Katsuyuki; Sekine,Masaki; Yamazaki,Tomomi; Mukai,Yurika; Banno,Kouji; Kurahashi,Hiroki; Kudo,Yoshiki

doi:10.3892/etm.2024.12647

September-2024 Volume 28 Issue 3

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September-2024 Volume 28 Issue 3

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Case Report Open Access

Mixed gonadal dysgenesis with gonadoblastoma diagnosed by prophylactic laparoscopic gonadectomy: A case report

Authors:
- Takuto Uyama
- Iemasa Koh
- Tomoki Komoshita
- Ayako Matsushima
- Ryo Ohara
- Arisa Nomura
- Yuka Enokizono
- Yuki Sato
- Kosuke Nakamoto
- Hirohiko Morioka
- Yuriko Oomori
- Yuko Teraoka
- Suguru Nosaka
- Katsuyuki Tomono
- Masaki Sekine
- Tomomi Yamazaki
- Yurika Mukai
- Kouji Banno
- Hiroki Kurahashi
- Yoshiki Kudo
View Affiliations / Copyright

Affiliations: Department of Obstetrics and Gynecology, Hiroshima University Hospital, Hiroshima 734‑0037, Japan, Division of Molecular Genetics, Center for Medical Science, Fujita Health University, Toyoake, Aichi 470‑1192, Japan

Copyright: © Uyama et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
Article Number: 358
|
Published online on: July 9, 2024

https://doi.org/10.3892/etm.2024.12647
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Abstract

Mixed gonadal dysgenesis (MGD) is a disorder of sex development caused by mosaicism of the Y chromosome, represented by 45,X/46,XY. Prophylactic gonadectomy is recommended as soon as possible after its diagnosis, owing to a high risk of malignancy. In the present case, a 21‑year‑old woman presented with primary amenorrhea. Although the patient's external genitalia were female, the patient exhibited a hypoplastic uterus, wherein the ovaries were difficult to identify. The patient's height was 146 cm; they had cubitus valgus and webbing of the neck, leading to the consideration of a disorder of sex development. Chromosomal examination revealed 45,X/46,XY mosaicism. Thus, the patient was diagnosed with MGD. After thorough counseling, laparoscopic bilateral gonadectomy was performed. Pathological examination revealed a gonadoblastoma of the left gonad. Postoperatively, the patient had no recurrence and continued on Kaufmann therapy. In conclusion, prophylactic gonadectomy is recommended immediately following a diagnosis of MGD; however, the timing of the surgery should be carefully considered and adequate counseling should be conducted by a multidisciplinary team.

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Journals

International Journal of Molecular Medicine

International Journal of Oncology

Molecular Medicine Reports

Oncology Reports

Experimental and Therapeutic Medicine

Oncology Letters

Biomedical Reports

Molecular and Clinical Oncology

World Academy of Sciences Journal

International Journal of Functional Nutrition

International Journal of Epigenetics

Medicine International

Mixed gonadal dysgenesis with gonadoblastoma diagnosed by prophylactic laparoscopic gonadectomy: A case report

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