ABSTRACT
Hydrometrocolpos is a rare finding in newborns. It can be an isolated finding or may be associated with syndromes. Antenatal diagnosis is possible. It is due to the accumulation of secretion in the uterus, distending it and resulting in abdominal swelling. In case of suspected syndromes, an attempt should be made to look for other organ involvement and genetic diagnosis. We here report a term neonate with hydrometrocolpos, which was antenatally diagnosed and was managed conservatively.
Subject(s)
Hydrocolpos , Urogenital Abnormalities , Uterine Diseases , Pregnancy , Infant, Newborn , Humans , Female , Hydrocolpos/diagnostic imaging , Prenatal Diagnosis , Uterine Diseases/diagnosis , UterusABSTRACT
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.