What is the pathogenesis of Swyer syndrome?

Updated: Oct 14, 2019
  • Author: Kristi A Tough DeSapri, MD; Chief Editor: Richard Scott Lucidi, MD, FACOG  more...
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The early stages of testicular formation require the action of several genes, of which one of the earliest and most important is the sex-determining region of the Y chromosome (SRY). In Swyer syndrome, a testicular regression syndrome that occurs very early in embryogenesis, the fetus has a 46,XY karyotype but with mutations of the SRY gene such that the testes never form and anti-müllerian hormone is not produced, thereby resulting in a female phenotype.

These individuals have a vagina, uterus, and fallopian tubes. Germ cells in the gonads are lost before birth. The streak gonads must be surgically removed because of the increased risk for developing germ cell tumor. Pure gonadal dysgenesis occurs when the syndrome affects the gonads only and no other dysmorphic features are noted.

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