Contents

SynopsisCodesDifferential Diagnosis & PitfallsBest TestsReferences
Swyer syndrome
Other Resources UpToDate PubMed

Swyer syndrome

Contributors: Marilyn Augustine MD
Other Resources UpToDate PubMed

Synopsis

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.

Codes

ICD10CM:
Q99.1 – 46, XX true hermaphrodite

SNOMEDCT:
95218005 – Pure gonadal dysgenesis 46,XY

Differential Diagnosis & Pitfalls

To perform a comparison, select diagnoses from the classic differential

Subscription Required

Best Tests

Subscription Required

References

Subscription Required

Last Updated:01/24/2022
Copyright © 2024 VisualDx®. All rights reserved.
Swyer syndrome
Print  
A medical illustration showing key findings of Swyer syndrome : Amenorrhea, Infertility
Copyright © 2024 VisualDx®. All rights reserved.