Aphallia: Report of three cases and literature review

Abstract

Background: Aphallia or penile agenesis is a rare malformation accompanying with no phallus. This anomaly is extremely rare with abnormality of urogenital system and psychological consequences. Its outbreak is estimated 1 out of 10-30 million births. Case: Reviewing 3 cases of male external genitalia agenesis, which associated with multiple anomalies of musculoskeletal, cardiovascular and genitourinary system. Conclusion: Aphallia has psychosocial consequences and a guarded prognosis. This study showed that if the kidney failure is due to its obstruction, these patients will be born in more favorable conditions and the future treatment measures will be directed to keep the external genitalia (male) through timely diagnosis and prenatal surgery and timely bladder drainage.

Aphallia - congenital absence of the penis: a systematic review

“…F.A. Talebpur et al, 2016 [ 13 ] Neonate, H-0, gestational age 31 weeks 2 kg Penile agenesis • No phallus was seen in baby via clinical examination. •Urinary endoscopic examination: Urine was mixed with meconium discharged into dentate line proximity.…”

“…The most cases were reported in the USA which were 31% (n:13) of all cases [ 2 , 7 , 8 , 12 , 16 , 30 , 32 – 34 ], followed by India with 21% (n:9) [ 14 , 18 , 19 , 21 , 25 , 29 , 34 ] Iran with 12% (n:5) [ 5 , 13 , 17 ], China with 7.3% [ 1 , 6 , 23 ], Turkey with 4% (n:2) [ 15 , 31 ], France with 4% (n:2) [ 23 , 27 ], Japan with 4% (n:2) [ 26 , 27 ], Morocco with 4% (n:2) [ 9 , 10 ], Mexico with 2% (n:1) [ 3 ], UK with 2% (n:1) [ 11 ], and Senegal with 2% (n:1) [ 22 ].…”

“…The majority of cases involve males with 97% (n:40) of all cases (1–3,7–29), and 2% (n:1) was female [ 2 ]. Of the 35 cases, the majority with 48% (n:20) cases were term neonates [ 2 , 3 , 8 – 12 , 14 , 17 , 18 , 21 , 22 , 25 , 28 , 30 , 33 ], while 19% (n:8) were preterm neonates [ 2 , 13 , 24 , 26 , 32 , 34 ], 9% (n:4) were infants [ 1 , 16 , 25 , 34 ], 9% (n:4) were under five [ 5 , 7 , 19 , 27 ],and 12% (n:5) were over 5 years old [ 6 , 15 , 23 , 29 , 31 ]. The patient with the lowest gestational age was 31 weeks [ 13 ], with the oldest patient ‘s age was 31 years old [ 23 ].…”

“…Only 14 cases reported weight. As many as 19% (n:8) of cases reported low birth weight neonate [ 13 , 18 , 21 , 25 , 26 , 32 ], and 14% (n:6) of cases were normal birth weight neonates [ 9 , 11 , 14 , 17 , 25 , 27 ]. The case with the lowest birth weight was 1,440 g [ 26 ] and the case with the largest birth weight was 4,000 g [ 25 ].…”

Aphallia Associated with Anorectal Malformation

“…Aphallia is an extremely rare sporadic genitourinary malformation with less than 100 cases reported worldwide. 1 – 3 It is defined as an absent phallus with complete absence of the two corpora cavernosa and the corpus spongiosum. In addition, it is usually associated with an ectopic and short urethral opening to the rectum or anus and a well-formed scrotum with both testes descended.…”