Persistent Mullerian Duct Syndrome: a rare entity with a rare presentation in need of multidisciplinary management
- Resource Type
- article
- Authors
- Lin Da Aw; Murizah M. Zain; Sandro C. Esteves; Peter Humaidan
- Source
- International Brazilian Journal of Urology, Vol 42, Iss 6, Pp 1237-1243
- Subject
- Persistent Müllerian Duct Syndrome [Supplementary Concept]
Disorders of Sex Development
Hydrocolpos
Diseases of the genitourinary system. Urology
RC870-923
- Language
- English
- ISSN
- 1677-6119
1677-5538
ABSTRACT 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.