Persistent Mullerian Duct Syndrome: a rare entity with a rare presentation in need of multidisciplinary management
- Resource Type
- report
- Authors
- Aw, Lin Da; Zain, Murizah M.; Esteves, Sandro C.; Humaidan, Peter
- Source
- International braz j urol. December 2016 42(6)
- Subject
- Persistent Müllerian Duct Syndrome [Supplementary Concept]
Disorders of Sex Development
Hydrocolpos
- Language
- English
- ISSN
- 1677-5538
Main findings: A typical male looking adolescent with a legal female gender assignment presented with haematuria. Investigations led to the diagnosis of Persistent Mullerian Duct Syndrome. The condition is indeed a rare entity that needs a multidisciplinary team management. Case hypothesis: A case of Persistent Mullerian Duct Syndrome undiagnosed at birth because karyotyping was defaulted, thus resulting in a significant impact on the legal gender assignment and psychosocial aspects. Promising future implications: The reporting of this case is important to create awareness due to its rarity coupled with the rare presentation with hematuria as a possible masquerade to menstruation. There were not only medical implications, but also psychosocial and legal connotations requiring a holistic multidisciplinary management.