Zeynep Öztürk İNAL, Nurşadan GERGERLİOĞLU, İlknur KÜÇÜKOSMANOĞLU, Meryem İlkay KARANİS

Androjen duyarsızlık sendromunda bilateral Sertoli hücreli adenom olgusu

Önceden testiküler feminizasyon sendromu olarak isimlendirilen androjen duyarsızlık sendromu androjen reseptör gen üzerinde lokalize X kromozomundaki q11-q12 mutasyonunun bulunduğu, X'e bağlı geçiş gösteren resesif bir hastalıktır. Androjen duyarsızlık sendromlu hastalarda puberteden sonra testiküler tümörler, özellikle de seminom gelişebilmektedir. Primer amenore şikayeti ile başvuran 35 yaşındaki hastamızın bilateral inguinal bölgede palpasyonla ele gelen yaklaşık 4 cm'lik kitlenin, eksizyon sonucu histopatolojik değerlendirilmesinde bilateral Sertoli hücreli adenom olarak rapor edilmiştir. Androjen duyarsızlık sendromlu hastalarda bilateral gonadal tümör gelişim riski düşük olsa da bu tür malignitelerin de görülebileceği göz ardı edilmemelidir.

A case of bilateral Sertoli cell adenoma in androgen insensitivity syndrome

Androgen insensitivity syndrome, previously referred to as testicular feminization syndrome, is an X-linked recessive disorder that is characterized by a mutation in the q11-q12 region of the X chromosome, which results in a deformed androgen receptor gene. Patients with androgen insensitivity syndrome may develop testicular tumors, especially seminomas after puberty. A 35-year-old female patient presented with the complaint of primary amenorrhea and had masses of approximately 4 cm size palpated in the bilateral inguinal regions. The masses were excised and the histopathological examination was reported as bilateral Sertoli cell adenoma. Although the risk of bilateral gonadal tumor development is low in patients with androgen insensitivity syndrome, such malignancies should not be disregarded.

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