A case of complete androgen insensitivity syndrome presenting with incarcerated inguinal hernia: an immunohistochemical study.
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.
Papanastasopoulos
Panagiotis
P
Department of Pathology, Agios Andreas General Hospital, Patras, Greece. Electronic address: pan_papas@yahoo.com.
Panagidis
Antonios
A
Karamandanio Pediatric Hospital of Patras, Patras, Greece.
Verras
Dionysios
D
Department of Pathology, Agios Andreas General Hospital, Patras, Greece.
Repanti
Maria
M
Department of Pathology, Agios Andreas General Hospital, Patras, Greece.
Georgiou
George
G
Karamandanio Pediatric Hospital of Patras, Patras, Greece.
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
D054834:Lipocalins; D011944:Receptors, Androgen; D055758:SOX9 Transcription Factor; D054304:Anti-Mullerian Hormone; D019746:Intramolecular Oxidoreductases; C022466:prostaglandin R2 D-isomerase