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

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.

Hydrometrocolpos due to persistent urogenital sinus mimicking neonatal ascites

A urogenital sinus is a common channel into which both the urethra and genital tracts open. Occasionally there might be transverse obstructing membrane leading to hydrometrocolpos from either uterine secretions or urine. Although the presentation is varied, a neonatal presentation of a large hydrometrocolpos mimicking gross ascites is rare. A 3-day-old female infant was referred to us from periphery as a case of gross ascites of unknown cause. Patient was having rapid and shallow breathing and had gross ascites. The patient was evaluated and was diagnosed to have large hydrometrocolpos. To avoid unnecessary delay in diagnosis and proper treatment the possibility of hydrometrocolpos secondary to urogenital sinus presenting as generalized abdominal distension should be kept in mind. A focused genital examination can help achieve the diagnosis