[Description of 8 cases with gonadal dysgenesis syndrome type 46XY].

Abstract

It is described the clinical evaluation of eight cases with gonadal dysgenesis syndrome type 46XY diagnosed and followed in our division of Pediatric-Adolescent Gynecology since 1992 to January 2000. Two out of eight patients presented pure gonadal dysgenesis (Swyers syndrome), one presented 17-beta-hydroxysteroid-deydrogonase deficiency and the rest five presented Testicular Feminization Syndrome. The adolescents visited our department for the first time while being fifteen years old because of primary amenorrhea and growth retardation of secondary sex features. Apart from interview, physical and gynecological examination we performed complimentary haematological, biochemical, hormonal tests and confirmed the diagnosis by chromosomal analysis. Studying the upper and lower abdomen by the means of imaging methods (U/S and CT) we found out the presence of uterus and in few cases the gonadal position. Because of the high risk of malignancy all the patients underwent surgical gonadectomy. Postoperatively hormonal replacement therapy was administered to reinforce the female sex features and prevent the hormonal deficiency consequences like osteoporosis. The follow up included haematological, biochemical and hormonal tests. If uterus existed the endometrium thickness measured by ultrasound. Furthermore bone density, palpative and ultrasonography breast examination and investigation of possible psychological disorders insure the complete screening of the young "female" patients.