title: A case of complete androgen insensitivity syndrome presenting with incarcerated inguinal hernia: an immunohistochemical study.
abstract: OBJECTIVE
  To present a case of complete androgen insensitivity syndrome that initially presented as incarcerated inguinal hernia and to investigate the expression of antimüllerian hormone (AMH), SOX-9 (SRY-box-containing gene 9), prostaglandin D synthase (PGDS), and androgen receptors (AR).
  
  
  METHODS
  Case report.
  
  
  METHODS
  District hospital.
  
  
  METHODS
  A 12-year-old girl with negative past medical and family history, who presented with a 6-hour history of progressive left groin pain.
  
  
  METHODS
  Open gonadectomy.
  
  
  METHODS
  Immediate surgery, diagnosis, and referral to a multidisciplinary team for further management.
  
  
  RESULTS
  Pathologic analysis revealed a left twisted and infarcted testicle, and a normal right one containing immature seminiferous tubules with a decreased number of spermatogonia. Immunohistochemical analysis revealed strong cytoplasmic and nuclear expression of AMH and SOX-9, respectively, by the Sertoli cells as well as focal weak cytoplasmic PGDS expression. The spermatogonia showed focal weak nuclear PGDS expression. The Leydig cells showed no immunoreactivity at all. No AR immunoreactivity was observed.
  
  
  CONCLUSIONS
  Negative AR immunostaining could either reflect Sertoli-cell immaturity or a mutation resulting in no protein production. The AMH immunodetection, consistent with its high serum levels, could potentially reflect Sertoli-cell immaturity. The SOX-9 nuclear detection in the Sertoli cells was consistent with its role, inducing male sex differentiation, including AMH expression. The nuclear localization of PGDS in the spermatogonia needs further investigation.
authors.affiliation: Department of Pathology, Agios Andreas General Hospital, Patras, Greece. Electronic address: pan_papas@yahoo.com.
authors.forename: Panagiotis
authors.initials: P
authors.lastname: Papanastasopoulos
authors.affiliation: Karamandanio Pediatric Hospital of Patras, Patras, Greece.
authors.forename: Antonios
authors.initials: A
authors.lastname: Panagidis
authors.affiliation: Department of Pathology, Agios Andreas General Hospital, Patras, Greece.
authors.forename: Dionysios
authors.initials: D
authors.lastname: Verras
authors.affiliation: Department of Pathology, Agios Andreas General Hospital, Patras, Greece.
authors.forename: Maria
authors.initials: M
authors.lastname: Repanti
authors.affiliation: Karamandanio Pediatric Hospital of Patras, Patras, Greece.
authors.forename: George
authors.initials: G
authors.lastname: Georgiou
mesh_terms: D013734:Androgen-Insensitivity Syndrome / Q000150:complications* / Q000175:diagnosis* / Q000378:metabolism; D054304:Anti-Mullerian Hormone / Q000378:metabolism; D002648:Child; D005260:Female; D006552:Hernia, Inguinal / Q000150:complications* / Q000175:diagnosis*; D006801:Humans; D019746:Intramolecular Oxidoreductases / Q000378:metabolism; D054834:Lipocalins / Q000378:metabolism; D008297:Male; D011944:Receptors, Androgen / Q000378:metabolism; D055758:SOX9 Transcription Factor / Q000378:metabolism; D013737:Testis / Q000378:metabolism
chemical_list: D054834:Lipocalins; D011944:Receptors, Androgen; D055758:SOX9 Transcription Factor; D054304:Anti-Mullerian Hormone; D019746:Intramolecular Oxidoreductases; C022466:prostaglandin R2 D-isomerase