A case of complete androgen insensitivity syndrome presenting with incarcerated inguinal hernia: an immunohistochemical study  

Oleh:

Papanastasopoulos, Panagiotis ; Panagidis, Antonios ; Verras, Dionysios ; Repanti, Maria ; Georgiou, George

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Fertility and Sterility (keterangan: ada di ClinicalKey) vol. 92 no. 03 (Sep. 2009), page 1169.
Topik: Androgen receptor; antimüllerian hormone; complete androgen insensitivity syndrome; immunohistochemistry; incarcerated inguinal hernia; nuclear localization; prostaglandin D synthase; SOX-9

Ketersediaan

Perpustakaan FK Nomor Panggil: F02.K.2009.03 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

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). Design Case report. Setting District hospital. Patient(s) A 12-year-old girl with negative past medical and family history, who presented with a 6-hour history of progressive left groin pain. Intervention(s) Open gonadectomy. Main Outcome Measure(s) Immediate surgery, diagnosis, and referral to a multidisciplinary team for further management. Result(s) 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. Conclusion(s) 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.

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