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

• Autor(a) principal: Aw,Lin Da
• Data de Publicação: 2016
• Outros Autores: Zain,Murizah M., Esteves,Sandro C., Humaidan,Peter
• Tipo de documento: Relatório
• Idioma: eng
• Título da fonte: International Braz J Urol (Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1677-55382016000601237
• topic: Persistent Müllerian Duct Syndrome [Supplementary Concept]; Disorders of Sex Development; Hydrocolpos

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.