Altuncu, Ayşe Gönül Süleyman Demirel Tıp Fakültesi - Kadın Hastalıkları ve Doğum AD, Turkey , Bilen, Erdal Süleyman Demirel Tıp Fakültesi - Kadın Hastalıkları ve Doğum AD, Turkey , Köse, Seyit Ali Süleyman Demirel Tıp Fakültesi - Kadın Hastalıkları ve Doğum AD, Turkey , Özkaya, Mehmet Okan Süleyman Demirel Tıp Fakültesi - Kadın Hastalıkları ve Doğum AD, Turkey

Late diagnosed case of testicular feminization with Sertoli Leydig Tumor

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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.

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Testicular Feminization , Mayer , Rokitansky , Kuster , Hauser syndrome , Sertoli , Leydig Cell Tumor.

Pamukkale Medical Journal

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