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Persistent Mullerian Duct Syndrome: a rare entity with a rare presentation in need of multidisciplinary management

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 o...

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Detalles Bibliográficos
Autores principales: Aw, Lin Da, Zain, Murizah M., Esteves, Sandro C., Humaidan, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Urologia 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5117982/
https://www.ncbi.nlm.nih.gov/pubmed/27532119
http://dx.doi.org/10.1590/S1677-5538.IBJU.2016.0225
Descripción
Sumario: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.