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Swyer syndrome
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Swyer syndrome

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Contributors: Marilyn Augustine MD
Other Resources UpToDate PubMed


46,XY complete gonadal dysgenesis. Patients have an XY chromosomal karyotype but are phenotypically female. Characterized by streak gonads, normal mullerian structures, and normal female external genitalia. Diagnosis typically occurs in adolescence due to absence of primary amenorrhea, at which point patients usually begin hormone replacement therapy to induce menstruation and the development of secondary sex characteristics.

For more information, see OMIM.


Q99.1 – 46, XX true hermaphrodite

95218005 – Pure gonadal dysgenesis 46,XY

Differential Diagnosis & Pitfalls

Other conditions which may present with primary amenorrhea in a 46,XY patient:
  • Complete androgen insensitivity syndrome (patients have elevated androgen levels, unlike Swyer syndrome)
  • 5-alpha-reductase deficiency (usually patients with this condition have virilization at puberty, unlike Swyer syndrome)

Best Tests

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Last Updated: 03/29/2017
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Swyer syndrome
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Swyer syndrome : Amenorrhea, Infertility
Copyright © 2020 VisualDx®. All rights reserved.