Persistent Müllerian duct syndrome

Also known as: PMDS

46,XY males with retained uterus and fallopian tubes.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Reproductive endocrinology
Sex & age distribution: Male: affected only; Female: not applicable; Children: yes, found at hernia repair or orchiopexy
Gene(s) involved: AMH, AMHR2

Etiology & mechanism

AMH or AMH receptor deficiency.

Gene(s) involved (2)

AMHAMHR2

Symptoms & signs (4)

cryptorchidisminfertilityinguinal hernia containing uterusnormal male external genitalia

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