Anatomical Variations of the External Genitalia in Posterior Cloaca: Clinical Consequences of Misdiagnosis—A Systematic Review of the Literature and the ARM-Net Consortium Experience

Topic overview

Key takeaways

• Posterior cloaca malformations often present with genital variations (hypoplastic labia, enlarged clitoris) that mimic ambiguous genitalia.
• Misdiagnosis as ambiguous genitalia leads to unnecessary karyotyping, hormonal testing, and potentially mutilating gender-assignment surgeries.
• In ARM-Net registry, 55% of posterior cloaca patients were misdiagnosed with ambiguous genitalia; one underwent unintended gonadectomy.
• Thorough physical exam and high clinical suspicion are essential to distinguish cloacal anatomic variants from true intersex conditions.
• Correct early diagnosis prevents wrong gender assignment, parental distress, and irreversible surgical interventions in female infants.

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