Swyer syndrome: The gender swayer?

Abstract

46XY complete gonadal dysgenesis (SWYER SYNDROME) is a rare type of Disorder of Sex Development. Herein we report a 15 years-old child, reared as female, presented with complaints of primary amenorrhoea, without short stature or Turner’s stigmata. Secondary sexual development was normal. Biochemically, luteinizing hormone (LH) was 23.29 mIU/ml and follicle stimulating hormone (FSH) was 54.94 mIU/ml. Serum estradiol level was 15.33 pg/ml (21–51), and Testosterone was 14.04 ng/dl. USG abdomen revealed a small uterus with thinned endometrium. MRI Abdomen showed hypoplastic uterus with non-visualized B/L ovaries (? Complete/pure gonadal dysgenesis). Patient had withdrawal bleeding with estrogen progesterone challenge test. Karyotype analysis revealed 46XY with no evidence of mosaicism. Based on these results a diagnosis of Swyer Syndrome (complete gonadal dysgenesis: Disorder of Sexual Development) was suspected. Patient was managed with a multidisciplinary approach and various issues were discussed.

Keywords: 46XY; Disorder of sexual development; Complete gonadal dysgenesis; Swyer syndrome