Swyer syndrome

Also known as: 46,XY complete gonadal dysgenesis

Female phenotype with 46,XY karyotype and streak gonads.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Reproductive endocrinology
Sex & age distribution: Male: not applicable; Female: affected (46,XY); Children: yes, diagnosed at puberty
Gene(s) involved: DHH, DMRT1, MAP3K1, NR5A1, SOX9, SRY, WT1

Etiology & mechanism

Failure of testis determination.

Gene(s) involved (7)

DHHDMRT1MAP3K1NR5A1SOX9SRYWT1

Symptoms & signs (7)

absent pubertygonadal tumor risknormal female genitaliaprimary amenorrheastreak gonadstall statureuterus present

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.