ISSN: 1300-0292 İndekslendiği Dizinler: SCIENCE CITATION INDEX EXPANDED CINAHL, Index Copernicus, Chemical Abstracts (CA), Excerpta Medica / EMBASE Dil: Türkçe, İngilizce İçerik: Orijinal Araştırma, Derleme, Editöre Mektup, Olgu Sunumu, Tıp Eğitimi, Tıbbi Kitap İncelemeleri
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Mixed Gonadal Dysgenesis Presented With Primary Amenorrhea:a Case Report
Ramazan SARI*, Mustafa Kemal BALCI**, Hasan ALTUNBAŞ***,Bahar KILINÇARSLAN****, Güngör KARAGÜZEL*****
* Uz.Dr., Akdeniz Üniversitesi Tıp Fakültesi Endokrinoloji ve Metabolizma BD,** Doç.Dr., Akdeniz Üniversitesi Tıp Fakültesi Endokrinoloji ve Metabolizma BD,*** Yrd.Doç.Dr., Akdeniz Üniversitesi Tıp Fakültesi Endokrinoloji ve Metabolizma BD,**** Yrd.Doç.Dr., Akdeniz Üniversitesi Tıp Fakültesi Patoloji AD,***** Doç.Dr., Akdeniz Üniversitesi Tıp Fakültesi Çocuk Cerrahisi AD, ANTALYA We reported a patient with mixed gonadal dysgenesis (45,X/46,XY (9qh+) karyotype). An 18 year-old female patient admitted to our endocrinology department due to primary amenorrhea and hirsutism. On physical examination, a male type muscle and female type external genitale was determined. The chromosome karyotype of the patient was 45,X/46,XY (9qh+). On the laparotomy, there was an infantile uterus, bilateral fallopian tubes and bilateral gonads. Bilateral gonadectomy was done because of risk for malignancy due to high testosterone level. The microscopic specimen of both gonads showed Sertoli-Leydig cells, and tubuler structures resembling rete testis. We stress the need for complete chromosomal evaluation of phenotypically female patients with primary amenorrhea and gonadectomy should be performed because of the risk of malignancy in patients with mixed gonadal dysgenesis.Keywords: Gonadal dysgenesis, AmenorrheaTurkiye Klinikleri J Med Sci 2002, 22:305-307
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