Aphalia

Melkamu Berhane, Gersam Abera, Seifu Alemu, Beza Eshetu

Overview

It is an extremely rare, urogenital malformation of the external genitalia characterized by congenitally absent penis in genetically male baby.

Summary

The management of aphalia is challenging both to the parents and the professionals due to the associated urological and psychological consequences. It requires multistage and multidisciplinary approach including pediatricians, pediatric surgeons, geneticists, endocrinologists and psychologists.

Author Comments

A child with Aphalia needs thorough evaluation as well as multistage and multidisciplinary treatment. Parental counseling and decision plays a critical role in the management.Gersam Abera Mulugeta

Aphalia: An Extremely Rare Congenital Genitourinary Malformation-A Case Report.

Ethiop J Health Sci 2019 May;29(3):409-412

Department of Pediatric and Child Health, Jimma University.

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 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.

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Source
http://dx.doi.org/10.4314/ejhs.v29i3.14DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6689716PMC
May 2019
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