Congenital aphallia is an extremely rare disorder with <100 cases reported globally. We report on an 11-month-old infant with aphallia and associated syrinx formation. We also review the pathogenesis, associated malformations, and current treatment guidelines for penile agenesis.
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From the Division of Plastic and Reconstructive Surgery, Department of Surgery, University of Utah School of Medicine, Salt Lake City, UT.
Aphallia is an exceedingly rare congenital malformation. The condition is the result of a sporadic anatomic anomaly during fetal development in a 46, XY male patient with otherwise normal functioning testes and male sexual hormone metabolism. Neophallus reconstruction using the De Castro phalloplasty technique is currently the most accepted treatment modality for this condition.
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