Malignant transformation in androgen insensitivity and Swyer syndrome: A report of two cases and review of the literature

Androjen insensitivitesi sendromu ve Swyer sendromunda malign transformasyon: Iki vaka sunumu ve literatürün gözden geçirilmesi

Özet

Literatürün ışığında androjen insensitivitesi sendromu ve Swyer sendromunun (46.XY gonadal disgenez) klinik, endokrinolojik ve sitogenetik özelliklerini belirtip, bu tipteki 46.XY kromozomal yapısına sahip fenotipik olarak female olan hastalarda gelişen gonadal malignitelere iki örnek vaka sunduk. İki disgerminom vakasının birisi AİS, diğeri de Swyer sendromlu bir hastada gelişmişti. Bu sendromlarda gonadal malignite riski daima akılda tutulmalı ve hastalara profilaktik gonadektomi Swyer sendromunda hemen, AİSda ise puberteden sonra önerilmelidir.

Abstract

OBJECTIVES: We aim to report two cases of dysgerminoma; one in an androgen insensitivity syndrome (AIS) patient while the other one in a Swyer syndrome patient and to review the relevant literature on the issue. STUDY DESIGN: We outlined the clinical, endocrinological and cylogenetical characteristics of AIS and Swyer syndrome (46,XY, gonadal dysgenesis) and gave4yi£p examples of malignant transformation of the gonads in these phenotypically female patients with a 46, ,KY chromosomal constitution from the files of Obstetrics and Gynecology Department of Ankara University. RESULTS: Two patients; one with AIS and the other with Swyer syndrome were operated and given chemotherapy for dysgerminoma. CONCLUSION: Development of gonadal malignancy in a 46, XY phenotypically female patient is a well documented phenomenon. Both the AIS and Swyer syndrome exhibit female phenotype with a 46, XY chromosomal constitution. The likelihood of malignant transformation of the gonads in these syndromes must be seriously considered by the clinicians and prophylactic gonadectomy should be offered accordingly.