Congenital Aphalia associated with Thoracic Hemivertebrae -A Case Report

Abstract

While one in 1000 to 2000 neonates are born with anatomically ambiguous genitalia, penile agenesis or "aphallia," is an extremely rare phenomenon for there are approximately only 60 reported cases as of 1989, and 75 cases as of 2005.1 It usually coexists with other anomalies which may be compatible or incompatible with normal life. Aphallia or absence of phallus ((penis or clitoris) is a very rare congenital anomaly that can occur in both males and females. A two month year old baby, born out of an uncomplicated pregnancy and with no family history of any other congenital anomalies or consanguinity was brought to our hospital, with complaints of absence of penis by the mother. Examination revealed a healthy child, with normal scrotum, bilaterally descended testis, with an anteriorly placed ectopic anus but with an absent penis. There was absence of a urethral meatus in the perineum, the urethra was later diagnosed as opening to the anterior part of the rectum. Ultrasonography revealed bilaterally normal kidneys. Radiological examinations revealed associated multiple thoracic hemivertebrae. Agenesis of the penis is a result of complete or partial failure in phallic development of the genital tubercle and failure in caudal migration of the urogenital sinus during the embryonic development. Infants with aphallia are usually raised as female so the aim of treatment in such cases is an early female gender assignment and feminizing reconstruction of the perineum, followed by oestrogen therapy to promote secondary sexual characters. The occurrence of hemivertebrae in cases of aphalia is very uncommon and not yet reported so far. So careful neonatal radiologic evaluation is essential to detect the association of such extremely rare skeletal anomalies which if not treated promptly may manifest in severe deformities in later life.