Tumor Risk in Disorders of Sex Development: A Reference Note on Pleskacova et al. (2010)
10/11/2026
Tumor risk in disorders of sex development is the chance that gonadal tissue in some DSD diagnoses develops germ cell tumors. Pleskacova and colleagues reviewed this in 2010 and reported that people with Y chromosome material in their karyotype carry an increased risk of type II germ cell tumors. The risk is not the same for every diagnosis.
What is the Pleskacova et al. 2010 paper?
It is a review article, published online in June 2010, that gathers what was known about germ cell tumors in people with differences of sex development. The full citation:
Pleskacova J, Hersmus R, Oosterhuis JW, Setyawati BA, Faradz SM, Cools M, Wolffenbuttel KP, Lebl J, Drop SL, Looijenga LH. Tumor risk in disorders of sex development. Sexual Development. 2010;4(4-5):259–269. doi:10.1159/000314536
Karger publishes the article; it can be read on the publisher's page through the DOI.
What does the paper say about tumor risk in DSD?
It says that DSD with Y chromosome material carry a higher risk of type II germ cell tumors, which arise from early fetal germ cells. The authors note that such gonads often hold immature germ cells that still show early fetal markers such as OCT3/4 and NANOG. They also point to TSPY as a leading candidate gene for the gonadoblastoma locus on the Y chromosome, and describe immunohistochemistry as a way to identify gonads at risk.
A later review names gonadoblastoma and dysgerminoma as the tumors linked to a Y chromosome in a dysgenetic gonad, as set out in Witchel's review.
How does tumor risk differ between DSD diagnoses?
It differs widely. The 2010 abstract reports the figures below, and its authors warn that they may be biased and that larger patient series were needed.
| Diagnosis | Risk reported in 2010 |
|---|---|
| Complete androgen insensitivity (CAIS) | about 0.8% |
| Partial androgen insensitivity (PAIS) | about 15% |
| Gonadal dysgenesis | over 30% |
| Ovotesticular DSD | about 2.6% |
For background on the diagnoses, see androgen insensitivity syndrome explained, complete and partial AIS and related conditions.
Why is this paper still cited?
It brought together the pathology (early fetal markers, TSPY) and the clinical picture in one review, so later work on gonadal tumors in DSD uses it as a starting point. Europe PMC lists about 105 citations as of November 2026.
How has the research aged since 2010?
The 2010 percentages are a snapshot and should be read with newer literature. Witchel's 2017 review treats gonadectomy as an individual decision made with a multidisciplinary team, and says that in CAIS most recent data show low tumor risk until early adult years. In 2025, a review in CA: A Cancer Journal for Clinicians covered germ cell and other tumors in people with differences of sex development; it is at the journal's page.
How these questions are discussed in care is covered in how medical management is discussed and AIS in childhood.
FAQ
What is a gonadal germ cell tumor in DSD?
A tumor that starts in the germ cells of the gonad.
Does everyone with a DSD have the same tumor risk?
No. The 2010 figures range from about 0.8% to over 30%, depending on the diagnosis.
Why does Y chromosome material matter?
The authors associated it with a higher risk of type II germ cell tumors.
Is the 2010 paper still current?
It is a historical reference; read its figures alongside later reviews.
Where can I read the paper?
On the publisher's site, through its DOI.
Sources
- Pleskacova J, et al. Sex Dev. 2010;4(4-5):259–269. PubMed: PMID 20558977.
- Witchel SF. Best Pract Res Clin Obstet Gynaecol. 2018;48:90–102.
- CA Cancer J Clin. 2025, germ cell and other tumors in differences of sex development.
Medical disclaimer
This note is informational and independent. It does not replace assessment by a medical team and gives no diagnosis or treatment advice.