| Abstract: | Swyer syndrome is a pure gonadal dysgenesis with a 46XY karyotype, normal female phenotype, and complete lack of functioning gonadal tissue, which is represented by bilateral, nonfunctioning, rudimentary streak gonads composed of fibrous tissue, with normal female internal genitalia. They present most often with primary amenorrhea. To date, 20% of these are explained by a mutation or a deletion in SRY. In 80%, SRY is apparently normal. The risk of gonadal neoplasia is high, dictating early prophylactic removal of these dysgenetic gonads. Laparoscopic surgery is recommended. Gonadoblastoma and dysgerminoma are the most frequently reported malignancies. |
