Aphalia An Extremely Rare Congenital Genitourinary Malformation-A Case Report

Abstract

BACKGROUND: Congenital aphalia is an extremely rare,
urogenital malformation of the external genitalia characterized by
congenitally absent penis in a karotypically XY child. It occurs 1 in
30 million live births.So far, only less than 100 cases have been
reported.
CASE DETAILS: A 3-hour old newborn was diagnosed with
aphalia after being referred from health center for respiratory
distress and congenital malformation of the external genitalia. He
had deranged renal function tests, hypoplastic kidneys, small patent
foramen ovale and ventricular septal defect. Management of the
acute conditions and parental counseling were done, but he passed
away on the 8 th day of life, due to the underlying diseases.
CONCLUSION: A patient with aphalia needs thorough evaluation
for possible associated malformations. Management is multistaged
and multidisciplinary. Parental counselling should be started as
early as possible, and their decision should be respected.