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.
CITATION STYLE
Da Aw, L., Zain, M. M., Esteves, S. C., & Humaidan, P. (2016). Persistent Mullerian Duct Syndrome: A rare entity with a rare presentation in need of multidisciplinary management. International Braz J Urol, 42(6), 1237–1243. https://doi.org/10.1590/S1677-5538.IBJU.2016.0225
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