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.

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Keywords OCT3/4, carcinoma in situ (CIS), disorders of sex development (DSD), germ cell tumours (GCTs), gonadal dysgenesis, gonadoblastoma (GB), maturation delay, non-seminoma, seminoma, stem cell factor (SCF), testicularisation, testis-specific protein on the Y chromosome (TSPY), undervirilisation
Persistent URL dx.doi.org/10.1016/j.beem.2009.10.002, hdl.handle.net/1765/28586
Citation
Looijenga, L.H.J., Hersmus, R., de Leeuw, B., Stoop, J.A., Cools, M.B.C.M., Oosterhuis, J.W., … Wolffenbuttel, K.P.. (2010). Gonadal tumours and DSD. Bailliere's Best Practice & Research. Clinical Endocrinology and Metabolism, 24(2), 291–310. doi:10.1016/j.beem.2009.10.002