Aphallia with Anal Stenosis and Congenital Cyanotic Heart Disease: A Rare Case Report

Abstract

Aphallia, an extremely rare urogenital anomaly, presents complex challenges in diagnosis and management. This anomaly, often accompanied by other congenital malformations, necessitates multidisciplinary care, and careful consideration of treatment priorities. We describe a case of a neonate diagnosed with aphallia along with anal stenosis, bilateral hydroureteronephrosis, and tetralogy of Fallot. Despite prompt intervention plans, the neonate’s condition deteriorated rapidly, highlighting the urgency and complexity of managing aphallia-associated complications. While embryological insights offer some understanding of its etiology, the clinical manifestation of aphallia underscores the need for immediate supportive measures and thoughtful decision-making regarding gender assignment and surgical interventions. Beyond medical considerations, emotional and psychological support for families navigating treatment decisions is paramount.