46XY Complete Gonadal Dysgenesis

Complete gonadal dysgenesis or Swyer syndrome is a type of 46XY DSD where various genetic abnormalities lead to failure of development of the testis resulting in bilateral streak gonads. As the streak gonads have no functional tissue, there is a lack of testosterone and anti-Mullerian hormone (AMH) in the fetal period, resulting in the female phenotype. The patient typically presents in the adolescent period to the physician with complaints of primary amenorrhea and failure of development of secondary sexual characteristics. A well-formed vaginal orifice and cervix is present with a small sized uterus. Investigations include genetic testing, assessment of hormonal levels, and imaging studies. Management is along the lines of complete ovarian failure. As there is a high risk of development of gonadoblastoma, bilateral gonadectomy is recommended.