A cloacal anomaly is not a disorder of sex development

Andrea Bischoff, Andrew Trecartin, Veronica Alaniz, Sarah Hecht, Duncan T. Wilcox, Alberto Peña

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

Abstract

Aim of the study: Misdiagnosing a cloaca as a disorder of sex development may lead to inappropriate testing, treatment, and negative emotional consequences to families. We were impressed by the fact that a significant number of patients suffering from a cloaca were referred to us with the diagnosis of a “disorder of sex development” previously referred as “ambiguous genitalia” or “intersex”. On re-evaluation, none of them truly had a disorder of sex differentiation. This prompted us to conduct the following retrospective review to try to find the cause of the misdiagnosis and the way to prevent it. Methods: A retrospective review of our colorectal database was performed to identify the total number of patients with cloacas and the number initially diagnosed as “ambiguous genitalia, intersex”/disorder of sex development. The external appearance of their genitalia and unnecessary testing or treatment received were recorded. Main results: A total of 605 patients with cloacas were identified. Of these, 77 (12.7%) were referred to us with the diagnosis of “ambiguous genitalia” and 13 of them (17%) went on to receive an intervention that was not indicated: karyotyping (10), steroids (3), and ovarian biopsy (1). The karyotype result in all patients was XX. The misdiagnosis was triggered by the external appearance of the perineum, simulating a case of virilization with a hypertrophic clitoris, but was simply prominent labial skin. Careful examination of the perineal structure allowed us to determine that it consisted of folded skin with no evidence of corpora. Conclusion: Patients born with a cloaca are at risk for mismanagement from being erroneously labeled as disorders of sex development. The diagnosis of a cloacal anomaly is a clinical one. The practitioner must distinguish between phallus-like clitoral hypertrophy and a normal clitoris with prominent labial skin.

Original languageEnglish (US)
Pages (from-to)985-987
Number of pages3
JournalPediatric Surgery International
Volume35
Issue number9
DOIs
StatePublished - Sep 1 2019
Externally publishedYes

Keywords

  • Ambiguous genitalia
  • Anorectal malformation
  • Cloaca
  • Disorders of sex development
  • Intersex

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Surgery

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