Gonadal tumours and DSD

Looijenga, Leendert H.J.; Hersmus, Remko; de Leeuw, Bertie H.C.G.M.; Stoop, Hans; Cools, Martine; Oosterhuis, J. Wolter; Drop, Stenvert L.S.; Wolffenbuttel, Katja P.

doi:10.1016/j.beem.2009.10.002

« Previous Next »Best Practice & Research Clinical Endocrinology & Metabolism
Volume 24, Issue 2 , Pages 291-310, April 2010

Gonadal tumours and DSD

Leendert H.J. Looijenga, PhD
- Department of Pathology, Erasmus MC-University Medical Center Rotterdam, Josephine Nefkens Institute, Daniel den Hoed Cancer Center, Rotterdam, The Netherlands
- Corresponding author. Department of Pathology, Erasmus MC-University Medical Center Rotterdam, Josephine Nefkens Institute, Building Be, Room 430b, P.O. Box 2040, 3000 CA Rotterdam, The Netherlands. Tel.: +31 10 70 44329; Fax: +31 10 70 44365.
Remko Hersmus, BSc, PhD student
- Department of Pathology, Erasmus MC-University Medical Center Rotterdam, Josephine Nefkens Institute, Daniel den Hoed Cancer Center, Rotterdam, The Netherlands
Bertie H.C.G.M. de Leeuw, PhD
- Department of Pathology, Erasmus MC-University Medical Center Rotterdam, Josephine Nefkens Institute, Daniel den Hoed Cancer Center, Rotterdam, The Netherlands
Hans Stoop, BSc, PhD student
- Department of Pathology, Erasmus MC-University Medical Center Rotterdam, Josephine Nefkens Institute, Daniel den Hoed Cancer Center, Rotterdam, The Netherlands
Martine Cools, MD, PhD
- Department of Pediatric Endocrinology, University Hospital Ghent, Belgium
J. Wolter Oosterhuis, MD, PhD
- Department of Pathology, Erasmus MC-University Medical Center Rotterdam, Josephine Nefkens Institute, Daniel den Hoed Cancer Center, Rotterdam, The Netherlands
Stenvert L.S. Drop, MD, PhD
- Department of Pediatric Endocrinology, Erasmus MC-University Medical Center Rotterdam, Sophia, Rotterdam, The Netherlands
Katja P. Wolffenbuttel, MD
- Department of Pediatric Urology, Erasmus MC-University Medical Center Rotterdam, Sophia, Rotterdam, The Netherlands

Disorders of sex development (DSD), previously referred to as intersex, has been recognised as one of the main risk factors for development of type II germ cell tumours (GCTs), that is, seminomas/dysgerminomas and non-seminomas (e.g., embryonal carcinoma, yolk sac tumour, choriocarcinoma and teratoma). Within the testis, this type of cancer is the most frequent malignancy in adolescent and young adult Caucasian males. Although these males are not known to have dysgenetic gonads, the similarities in the resulting tumours suggest a common aetiological mechanism(s), –genetically, environmentally or a combination of both. Within the group of DSD patients, being in fact congenital conditions, the risk of malignant transformation of germ cells is highly heterogeneous, depending on a number of parameters, some of which have only recently been identified. Understanding of these recent insights will stimulate further research, with the final aim to develop an informative clinical decision tree for DSD patients, which includes optimal (early) diagnosis without overtreatment, such as prophylactic gonadectomy in the case of a low tumour risk.

Keywords: disorders of sex development (DSD), undervirilisation, gonadal dysgenesis, germ cell tumours (GCTs), seminoma, non-seminoma, carcinoma in situ (CIS), gonadoblastoma (GB), maturation delay, testicularisation, OCT3/4, testis-specific protein on the Y chromosome (TSPY), stem cell factor (SCF)