Communicating with parents with full disclosure: a case of cloacal extrophy with genital ambiguity

Full disclosure and complete involvement of parents in decisions concerning assignment of sex and genital surgery must be part of medical care for children presenting with findings consistent with disorders of intersex. Intersex most commonly involves disorders of steroidogenesis or gonadal function, but may include multiple cloacal anomalies, such as presented here.

To describe full disclosure of medical findings, by a multi-disciplinary medical team, as they became available over a period of weeks, in an infant originally assigned male, but eventually assigned female.

An infant born at 24 weeks of gestation, after prenatal ultrasound showing distended bladder, ascites, and bilateral hydroureters, found to have an imperforate anus and a tubular structure appearing as a thin penis, without palpable corpora.

Events concerning this case are discussed in relation to full disclosure of medical information to parents, guidelines for management of intersex, and the diagnosis (cloacal anomaly, cloacal extrophy, ano-rectal anomalies or uro-rectal septum malformation sequence).

Full disclosure with involvement of parents with medical decisions is not only mandated currently, but also can be an effective approach in intersex care.