Gonadal tumours and DSD

• Published in: Baillière's best practice & research. Clinical endocrinology & metabolism Vol. 24; no. 2; pp. 291 - 310
• Main Authors: Looijenga, Leendert H.J., PhD, Hersmus, Remko, BSc, PhD student, de Leeuw, Bertie H.C.G.M., PhD, Stoop, Hans, BSc, PhD student, Cools, Martine, MD, PhD, Oosterhuis, J. Wolter, MD, PhD, Drop, Stenvert L.S., MD, PhD, Wolffenbuttel, Katja P., MD
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier Ltd 01.04.2010
• Subjects: Adolescent; Adult; carcinoma in situ (CIS); Denys-Drash Syndrome - genetics; disorders of sex development (DSD); Disorders of Sex Development - complications; Disorders of Sex Development - pathology; Endocrinology & Metabolism; germ cell tumours (GCTs); Germ Cells - growth & development; gonadal dysgenesis; Gonadal Dysgenesis - pathology; gonadoblastoma (GB); Gonads - embryology; Gonads - pathology; Humans; Male; maturation delay; Neoplasms, Germ Cell and Embryonal - etiology; Neoplasms, Germ Cell and Embryonal - pathology; non-seminoma; OCT3/4; Risk Factors; seminoma; Seminoma - pathology; SOXB1 Transcription Factors - genetics; stem cell factor (SCF); Teratoma - pathology; Testicular Neoplasms - pathology; testicularisation; testis-specific protein on the Y chromosome (TSPY); undervirilisation; carcinoma in situ (CIS); testicularisation; undervirilisation; stem cell factor (SCF); maturation delay; gonadoblastoma (GB); non-seminoma; testis-specific protein on the Y chromosome (TSPY); disorders of sex development (DSD); gonadal dysgenesis; germ cell tumours (GCTs); seminoma; OCT3/4
• ISSN: 1521-690X; 1878-1594
• DOI: 10.1016/j.beem.2009.10.002

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.