title: Gonadal malignancy in 13 consecutive collected patients with disorders of sex development (DSD) from Semarang (Indonesia).
abstract: OBJECTIVE
  Caucasian patients with disorders of sex development (DSD) are at a high risk of developing germ cell cancer (GCC). GCC is prominent in young adults in Western countries, while the incidence is significantly lower in Asia. So far, the risk of GCC in Asian DSD patients is unknown.
  
  
  RESULTS
  A detailed study of gonad histology , morphology and immunohistochemistry (OCT3/4, testis-specific protein Y-encoded, VASA, SCF/KITLG, SOX9, FOXL2) of 16 Indonesian DSD patients was undertaken. 13 cases could be analysed, including ovarian tissue (n=3), streak gonad (n=1), undifferentiated gonad (n=1) and testicular tissue (n=8), diagnosed as 46, XX (n=1), 46, XY (n=7) and sex chromosome DSD (n=5). The precursor lesion gonadoblastoma or carcinoma in situ, or GCC was diagnosed in four cases (30.8%; three 46, XY and one sex chromosome DSD ). A hormone producing ovarian Leydig cell tumour was identified in a 46, XX patient, supposed to be a late onset congenital adrenal hyperplasia.
  
  
  CONCLUSIONS
  In spite of the significantly lower risk of GCC in the general Asian population, DSD is a dominant risk factor. The study demonstrates the power of immunohistochemical markers for (early) diagnosis. This knowledge will deepen understanding of the pathobiology of GCC and clinical handling of patients with DSD, globally.
authors.affiliation: Division of Human Genetics Center for Biomedical Research, Faculty of Medicine Diponegoro University (FMDU), Semarang, Central Java, Indonesia.
authors.forename: Achmad Zulfa
authors.initials: AZ
authors.lastname: Juniarto
authors.forename: Bestari A
authors.initials: BA
authors.lastname: Setyawati
authors.forename: Ika P
authors.initials: IP
authors.lastname: Miranti
authors.forename: Ardy
authors.initials: A
authors.lastname: Santosa
authors.forename: Remko
authors.initials: R
authors.lastname: Hersmus
authors.forename: Hans
authors.initials: H
authors.lastname: Stoop
authors.forename: Martine
authors.initials: M
authors.lastname: Cools
authors.forename: J Wolter
authors.initials: JW
authors.lastname: Oosterhuis
authors.forename: Stenvert L S
authors.initials: SL
authors.lastname: Drop
authors.forename: Sultana M H
authors.initials: SM
authors.lastname: Faradz
authors.forename: Leendert H J
authors.initials: LH
authors.lastname: Looijenga
mesh_terms: D000293:Adolescent; D000328:Adult; D014408:Biomarkers, Tumor / Q000378:metabolism; D002278:Carcinoma in Situ / Q000175:diagnosis; D002648:Child; D002675:Child, Preschool; D015897:Comorbidity; D012734:Disorders of Sex Development / Q000175:diagnosis* / Q000453:epidemiology / Q000378:metabolism; D042241:Early Diagnosis; D005260:Female; D005854:Germ Cells / Q000378:metabolism; D018238:Gonadoblastoma / Q000175:diagnosis; D006801:Humans; D007214:Indonesia / Q000453:epidemiology; D007223:Infant; D008297:Male; D010051:Ovarian Neoplasms / Q000175:diagnosis* / Q000453:epidemiology / Q000378:metabolism; D012307:Risk Factors; D017154:Stromal Cells / Q000378:metabolism; D013736:Testicular Neoplasms / Q000175:diagnosis* / Q000453:epidemiology / Q000378:metabolism; D055815:Young Adult
chemical_list: D014408:Biomarkers, Tumor