Ayşe Gönül ALTUNCU, Erdal BİLEN, Seyit Ali KÖSE, MEHMET OKAN ÖZKAYA

Geç tanı alan testiküler feminizasyon olgusunda sertoli leydig tümörü

Mayer-Rokitansky-Kuster-Hauser (MRKH) sendromuna benzerliği nedeniyle amenoreik hastalarda testiküler feminizasyon (TF) tanısı atlanabilmektedir. Testiküler feminizasyon olarak bilinen androjen duyarsızlık sendromu (AIS) X kromozomuna bağlı resesif iletilir. Hastalarda kromozomal analiz sonrası 46XY karyotipi izlenmektedir. Yıllık prevalansı 1/20000 ile 1/60000 arasındadır. Hastaların primer şikayeti adet görememedir. Fenotip olarak iyi gelişmiş meme dokusu, hipertrofik klitoris ve labium majuslar olmasına rağmen, kısa ve kör vajene sahiptirler. Bu çalışmada pelvik kitle nedeniyle kliniğimize başvuran, öncesinde MRKH sendromu olarak takip edilmiş, cerrahi sırasında patolojik olarak sertoli leydig hücreli tümör (SLHT) saptanan bir olguyu paylaşmayı hedefledik

Late diagnosed case of testicular feminization with sertoli leydig tumor

Testicular feminization (TF) has a similar phenotype with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome in patients with amenorrhea, causing confusion in diagnosis. It is an androgen insensitivity syndrome (AIS) and is genetically transmitted as an X-linked recessive condition. Cytogenetic analysis of patients reveals a 46XY chromosome structure. Testicular feminization (TF) has an annual prevalence of 1/20000 and 1/60000, and the main complaint of patients is usually primary amenorrhea. Phenotypically, well developed breast tissue, hypertrophic clitoris and labia majora with a short and blind vagina are detected. The aim of this study is to present a TF case that was followed as MRKH syndrome for years, and admitted to our clinic because of a pelvic mass. Sertoli Leydig cell tumor was diagnosed pathologically during surgery

Kaynakça

Ait Sakel A, Asseban M, Kallat A, et al. Vaginoplasty from peritoneal tube of douglas' poutch for androgen insensitivity syndrome (two case reports). J Gynecol Obstet Biol Reprod Paris, 2013;S0368:00037-00039.

Morris JM. The syndrome of teslicular feminizalion in male pseudo hermaphrodites. Am J Obstet Gynecol 1953;65:1192-1211.

Delev P, Pancheva S. The testicular feminization syndrome (morris syndrome), Akush Ginekol Sofiia, 1998;37:55-57.

Balsamo A, Baronio F, Berra M, Bertelloni S, D'Alberton F, Marrocco G, Vallasciani S. Comment on "complete androgen insensitivity syndrome: optimizing diagnosis and management". Case Rep Obstet Gynecol. 2014;2014:285715:18-21.

Griffin JE, Wilson JD. The syndromes of androgen resistance. N Eng J Med 1960;302:198-199.

Speroff L, Glass ROH, Kase NG. Normal and abnormal sexual development. In: clinical Gynecologic Endocrinology and infertility. 4th ed, Baltimore: Williams and Wilkins,1989;379-380.

Cotran RS, Kumar V, Robbins SL. Pathologic basis of disease. 4.th ed. W.B. Soundes campany: Phidelphia, 1989;115-116.