title: Persistent Mullerian Duct Syndrome: a rare entity with a rare presentation in need of multidisciplinary management.
abstract: 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 multidisciplinar 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.
authors.affiliation: Department of Obstetrics & Gynaecology, Hospital Sultanah Bahiyah, Kedah Darul Aman, Malaysia.|Fertility Clinic, Skive Regional Hospital, Denmark.
authors.forename: Lin
authors.initials: L
authors.lastname: Da Aw
authors.affiliation: Department of Obstetrics & Gynaecology, Hospital Sultanah Bahiyah, Kedah Darul Aman, Malaysia.
authors.forename: Murizah M
authors.initials: MM
authors.lastname: Zain
authors.affiliation: Androfert, Andrology & Human Reproduction Clinic, Referral Center for Male Reproduction, Campinas, Brazil.
authors.forename: Sandro C
authors.initials: SC
authors.lastname: Esteves
authors.affiliation: Fertility Clinic, Skive Regional Hospital, Denmark.|Faculty of Health, Aarhus University, Denmark.
authors.forename: Peter
authors.initials: P
authors.lastname: Humaidan
mesh_terms: D000005:Abdomen / Q000000981:diagnostic imaging; D000293:Adolescent; D058490:Disorder of Sex Development, 46,XY / Q000175:diagnosis* / Q000000981:diagnostic imaging; D012734:Disorders of Sex Development / Q000175:diagnosis* / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D052202:Hydrocolpos / Q000175:diagnosis* / Q000000981:diagnostic imaging; D008297:Male; D010388:Pelvis / Q000000981:diagnostic imaging
keywords: Disorders of Sex Development; Hydrocolpos; Persistent Müllerian Duct Syndrome [Supplementary Concept]; 