Primary amenorrhea secondary to 46XY pure gonadal dysgenesis (Swyer syndrome). Report of a case.
DOI:
https://doi.org/10.51481/amc.v40i3.599Keywords:
pure gonadal dysgenesis, Swyer's syndrome, primary amenorrheaAbstract
Pure gonadal dysgenesis 46XY, also known as Swyer"s syndrome, is a rare entity featured by the presence of bilateral non-functional gonadal streaks in a phenotypic female with hypoplasic female genitalia. Its etiology is still a subject of major controversy, but anomalies at the sex-determining region of the Y chromosome are frequently found. We report a case of primary amenorrhea with underlying Swyer"s syndrome and include a brief review of the subject.
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