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

• Published in: Experimental and therapeutic medicine Vol. 28; no. 3; p. 358
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: Greece Spandidos Publications 01.09.2024; Spandidos Publications UK Ltd
• Subjects: Amenorrhea; Care and treatment; Case reports; Diagnosis; Differences of sex development; Ear diseases; Endocrine glands; Females; Genotype & phenotype; Gonadal disorders; Laparoscopic surgery; Laparoscopy; Patient outcomes; Patients; Puberty; Surgery; Testes; Tumors; Ultrasonic imaging; Uterus; Y chromosomes; Japan; United States > US; prophylactic gonadectomy; multidisciplinary team; MGD; gonadoblastoma; laparoscopic surgery
• ISSN: 1792-0981; 1792-1015
• DOI: 10.3892/etm.2024.12647

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.