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

  • K. Takeuchi1,*,
  • S. Oomori1
  • N. Oda1
  • S. Takekida1
  • H. Kondo2
  • T. Maruo1

1Department of Obstetrics and Gynecology, Kobe University Graduate School of Medicine, Kobe, Japan

2Department of Obstetrics and Gynecology, Kakogawa Prefectual Hospital, Kakogawa, Japan

DOI: 10.12892/ejgo200305379 Vol.24,Issue 5,September 2003 pp.379-380

Published: 10 September 2003

*Corresponding Author(s): K. Takeuchi E-mail:

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Abstract

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 dic (Y; 5)(q12; q11), +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.

Keywords

Mixed gonadal dysgenesis; Turner syndrome; Spectral karyotyping; Laparoscopy

Cite and Share

K. Takeuchi,S. Oomori,N. Oda,S. Takekida,H. Kondo,T. Maruo. Laparoscopic gonadectomy in a case of a dicentric fluorescent Y-chromosome mosaicism with Turner-like phenotype and virilized external genitalia. European Journal of Gynaecological Oncology. 2003. 24(5);379-380.

URL:

https://www.ejgo.net/articles/10.12892/ejgo200305379

References

[1] De Arce M.A.C., Costigan J.R., Gosden M., Lawler P.H.: "Further evidence consistent with Y qh as an indicator of risk of gonadal blastoma in Y-bearing mosaic Turner syndrome". Clin. Genet., 1992, 41, 28.

[2] Page D.C.: "Y chromosomal sequences in Turner's syndrome and risk of gonadoblastoma or virilization". Lancet, 1994, 343, 240.

[3] Veldman T., Vignon C., Schrock E., Rowley J.D., Ried T.: "Hidden chromosome abnormalities in haematological malignancies detected by multicolour spectral karyotyping". Nature Genetics, 1997, 15, 406.

[4] Krasna I.H., Lee M.L., Smilow P., Sciorra L., Eierman L.: "Risk of malignancy in bilateral streak gonads: the role of the Y chromosome". J. Pediatr. Surg., 1992, 27, 1376.

[5] Hsu L.Y.: "Phenotype/ karyotype correlations ofY Chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases". Arn. J. Med. Genet., 1994, 53, 108.

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