Swyer syndrome
Alerts and Notices
Important News & Links
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
Q99.1 – 46, XX true hermaphrodite
SNOMEDCT:
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
Subscription Required
References
Subscription Required
Last Updated:01/24/2022