title: Dysgerminoma and gonadal dysgenesis: the need for a new diagnosis tree for suspected ovarian tumours.
abstract: OBJECTIVE
  Diagnosis of dysgerminoma in the paediatric age group is uncommon, and most cases arise from dysgenetic gonads of 46, XY pure gonadal dysgenesis (PGD) patients. Bilateral gonadectomy is mandatory in these patients. So, the preoperative diagnosis of PGD is important in order to avoid multiple surgical procedures and delayed patient information in the case of a suspected 'ovarian' tumour. Our aim was to discuss preoperative clues that can lead to suspicion of dysgerminoma in the context of PGD.
  
  
  METHODS
  We reviewed the charts of six patients treated for dysgerminoma associated with 46, XY PGD. We focused on particularities of clinical and biological evaluations.
  
  
  RESULTS
  Median age at diagnosis was 11 years. Pubertal development was absent or incomplete even at late ages. Dysgerminoma was associated with gonadoblastoma foci in all cases. Tumoral marker profile was a normal alfafetoprotein level, a high lactate dehydrogenase level and normal or moderate human chorionic gonadotropin (βHCG) secretion, except for one patient who had a mixed tumour with notably a choriocarcinoma share (high βHCG). Follicle-stimulating hormone (FSH) level was very high in all patients tested and, interestingly, also in one prepubertal patient.
  
  
  CONCLUSIONS
  In the case of a suspected ovarian tumour, delayed pubertal development, moderate βHCG level and elevated FSH level are clinical and biological clues to a diagnosis of dysgerminoma in the context of PGD and should prompt karyotype analysis before surgery. Because FSH is an efficient indirect marker of this condition, we suggest including this analysis in the management of gonadal tumours.
authors.affiliation: Pediatric Surgery Department, Hopital de la mère et de l'enfant, CHU Nantes, Université de Nantes, 38 Boulevard Jean Monnet, 44093 Nantes, France.
authors.forename: Carmen
authors.initials: C
authors.lastname: Capito
authors.forename: Alexis
authors.initials: A
authors.lastname: Arnaud
authors.forename: Frederic
authors.initials: F
authors.lastname: Hameury
authors.forename: Benjamin
authors.initials: B
authors.lastname: Fremond
authors.forename: Hubert
authors.initials: H
authors.lastname: Lardy
authors.forename: Marc David
authors.initials: MD
authors.lastname: Leclair
authors.forename: Yves
authors.initials: Y
authors.lastname: Heloury
mesh_terms: D000293:Adolescent; D014408:Biomarkers, Tumor / Q000097:blood; D002648:Child; D003663:Decision Trees; D004407:Dysgerminoma / Q000175:diagnosis* / Q000209:etiology; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D006059:Gonadal Dysgenesis / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D010051:Ovarian Neoplasms / Q000175:diagnosis* / Q000209:etiology; D012189:Retrospective Studies
chemical_list: D014408:Biomarkers, Tumor; D005640:Follicle Stimulating Hormone