46,XY female sex reversal syndrome with bilateral gonadoblastoma and dysgerminoma
- Authors:
- Xue Du
- Xuhong Zhang
- Yongmei Li
- Yukun Han
-
View Affiliations
Affiliations: Department of Obstetrics and Gynecology, General Hospital, Tianjin Medical University, Tianjin 300052, P.R. China, Department of Microbiology and Immunology, Tianjin Medical University, Tianjin 300070, P.R. China
- Published online on: August 19, 2014 https://doi.org/10.3892/etm.2014.1922
-
Pages:
1102-1104
Metrics:
Total
Views: 0 (Spandidos Publications: | PMC Statistics:
)
Metrics:
Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics:
)
This article is mentioned in:
Abstract
Sex reversal syndrome is a rare congenital condition of complete or disordered gonadal development leading to discordance between the genetic, gonadal and phenotypic sexes, including 46,XX and 46,XY. The gonadoblastoma on the Y‑chromosome (GBY) region is associated with an increased risk of developing type II germ cell tumors/cancer. The present study reports a unique case of a phenotypically normal female (age 17 years), presenting with primary amenorrhea and later diagnosed with 46,XY female sex reversal syndrome. Following bilateral gonadectomy, bilateral gonadoblastoma and dysgerminoma were diagnosed. Thus, estrogen replacement therapy was administered periodically to promote the development of secondary sexual characteristics and menstruation, and to prevent osteoporosis. A four year follow‑up showed no tumor recurrence and a regular menstrual cycle in this patient.
View References
|
1
|
Hughes IA, Houk C, Ahmed SF and Lee PA:
Consensus statement on management of intersex disorders. Arch Dis
Child. 91:554–563. 2006. View Article : Google Scholar : PubMed/NCBI
|
|
2
|
Hersmus R, de Leeuw BH, Wolffenbuttel KP,
et al: New insights into type II germ cell tumor pathogenesis based
on studies of patients with various forms of disorders of sex
development (DSD). Mol Cell Endocrinol. 291:1–10. 2008. View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Wu GF, Jin RL and Jia HP: Diagnosis of the
missense mutation of SRY gene in a patient with 46XY female sex
reverse. Medical & Pharmaceutical Journal of Chinese People’s
Liberation Army. 23:4–6. 2011.(In Chinese).
|
|
4
|
Bao MS, Wu XB, Chen SH, et al: Analysis of
SRY gene in patients with sex reversal syndrome. The Journal of
Practical Medicine. 23:348–350. 2007.(In Chinese).
|
|
5
|
Sukumaran A, Desmangles JC, Gartner LA and
Buchlis J: Duplication of dosage sensitive sex reversal area in a
46, XY patient with normal sex determining region of Y causing
complete sex reversal. J Pediatr Endocrinol Metab. 26:775–779.
2013. View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Domenice S, Corrêa RV, Costa EM, et al:
Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian
sex-reversed patients. Braz J Med Biol Res. 37:145–150. 2004.
View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Hersmus R, Stoop H, Turbitt E, et al: SRY
mutation analysis by next generation (deep) sequencing in a cohort
of chromosomal Disorders of Sex Development (DSD) patients with a
mosaic karyotype. BMC Med Genet. 13:1082012. View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Cools M, Drop SL, Wolffenbuttel KP,
Oosterhuis JW and Looijenga LH: Germ cell tumors in the intersex
gonad: old paths, new directions, moving frontiers. Endocr Rev.
27:468–484. 2006. View Article : Google Scholar : PubMed/NCBI
|
|
9
|
Kanagal DV, Prasad K, Rajesh A, et al:
Ovarian gonadoblastoma with dysgerminoma in a young girl with 46,
XX Karyotype: A Case Report. J Clin Diagn Res. 9:2021–2022.
2013.PubMed/NCBI
|
