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

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Vol. 42 (6): 1237-1243, November – December, 2016

doi: 10.1590/S1677-5538.IBJU.2016.0225


CHALLENGING CLINICAL CASES

Lin Da Aw 1,2, Murizah M. Zain 1, Sandro C. Esteves 3, Peter Humaidan 2,4

1 Department of Obstetrics & Gynaecology, Hospital Sultanah Bahiyah, Kedah Darul Aman, Malaysia; 2 Fertility Clinic, Skive Regional Hospital, Denmark; 3Androfert, Andrology & Human Reproduction Clinic, Referral Center for Male Reproduction, Campinas, Brazil; 4 Faculty of Health, Aarhus University, Denmark

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 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.

Keywords: Persistent Müllerian Duct Syndrome [Supplementary Concept]; Disorders of Sex Development; Hydrocolpos

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