IMR Press / EJGO / Volume 24 / Issue 5 / pii/2003186

European Journal of Gynaecological Oncology (EJGO) is published by IMR Press from Volume 40 Issue 1 (2019). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on as a courtesy and upon agreement with S.O.G.

Original Research

Laparoscopic gonadectomy in a case of a dicentric fluorescent Y-chromosome mosaicism with Turner-like phenotype and virilized external genitalia

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1 Department of Obstetrics and Gynecology, Kobe University Graduate School cl Medicine, Kobe, Japan
2 Department of Obstetrics and Gynecology, Kakogawa Prefectual Hospital, Kakogawa, Japan
Eur. J. Gynaecol. Oncol. 2003, 24(5), 379–380;
Published: 10 October 2003

In few cases of Turner syndrome the karyotype reveals the presence of an additional Y-bearing cell line, which is referred to as a borderline case of mixed gonadal dysgenesis. We report a 20-year-old woman with primary amenorrhea, virilization and a few Turner stigmata, who revealed rare mosaicism of 45,X/46,X die (Y; 5)(q 12; q 11), +5/46,X, der (Y), which was detected by con­ventional G-banding and multicolor spectral karyotyping. She underwent laparoscopic gonadectomy in which mixed gonadal dys­genesis was found and both gonads were removed. No evidence of gonadoblastoma was noted on the gonads. Virilization improved postoperatively. We recommend gonadectomy via laparoscope in women presenting with Turner-like phenotype, virilization and the presence of a Y chromosome. This report describes the role of cytogenetic and molecular genetic investigations in the definition of mosaicism in Turner syndrome.

Mixed gonadal dysgenesis
Turner syndrome
Spectral karyotyping
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