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

  • Published online on: July 9, 2024     https://doi.org/10.3892/etm.2024.12647
  • Article Number: 358
  • Copyright: © Uyama et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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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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September-2024
Volume 28 Issue 3

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Spandidos Publications style
Uyama T, Koh I, Komoshita T, Matsushima A, Ohara R, Nomura A, Enokizono Y, Sato Y, Nakamoto K, Morioka H, Morioka H, et al: Mixed gonadal dysgenesis with gonadoblastoma diagnosed by prophylactic laparoscopic gonadectomy: A case report. Exp Ther Med 28: 358, 2024
APA
Uyama, T., Koh, I., Komoshita, T., Matsushima, A., Ohara, R., Nomura, A. ... Kudo, Y. (2024). Mixed gonadal dysgenesis with gonadoblastoma diagnosed by prophylactic laparoscopic gonadectomy: A case report. Experimental and Therapeutic Medicine, 28, 358. https://doi.org/10.3892/etm.2024.12647
MLA
Uyama, T., Koh, I., Komoshita, T., Matsushima, A., Ohara, R., Nomura, A., Enokizono, Y., Sato, Y., Nakamoto, K., Morioka, H., Oomori, Y., Teraoka, Y., Nosaka, S., Tomono, K., Sekine, M., Yamazaki, T., Mukai, Y., Banno, K., Kurahashi, H., Kudo, Y."Mixed gonadal dysgenesis with gonadoblastoma diagnosed by prophylactic laparoscopic gonadectomy: A case report". Experimental and Therapeutic Medicine 28.3 (2024): 358.
Chicago
Uyama, T., Koh, I., Komoshita, T., Matsushima, A., Ohara, R., Nomura, A., Enokizono, Y., Sato, Y., Nakamoto, K., Morioka, H., Oomori, Y., Teraoka, Y., Nosaka, S., Tomono, K., Sekine, M., Yamazaki, T., Mukai, Y., Banno, K., Kurahashi, H., Kudo, Y."Mixed gonadal dysgenesis with gonadoblastoma diagnosed by prophylactic laparoscopic gonadectomy: A case report". Experimental and Therapeutic Medicine 28, no. 3 (2024): 358. https://doi.org/10.3892/etm.2024.12647