Aphallia in an adult male with 46,XY karyotype

Abstract

Aphallia is a rare urogenital anomaly with an estimated incidence of 1 in 10-30 million. We report a case of aphallia in a male, who had two well-developed testicles, but lacked a penis. Digital rectal examination revealed the urethral meatus was opening to the anterior wall of the rectum posterior to the sphincter. Magnetic resonance imaging showed complete absence of penile development with normal testis and scrotum, as well as the urethra running posterior to the prostatic apex and corpus spongiosum in sagittal and coronal T2-weighted images. Chromosome karyotype confirmed 46,XY, and the polymerase chain reaction method tested no azoospermic factor (AZF) or sex-determining region Y (SRY) gene deletion. Taking into account the physical and psychosocial conditions, seeking a female without sexual desire as his wife was recommended.

Aphallia: Report of three cases and literature review

“…In addition to SRY gene, external genital system develops as cauda from septum whose development basically depends on androgen (testosterone) and similar to other septum organs, epithelial-mesenchymal interaction plays the key role in their development ( 12 ). In 2011, Wang introduced a case of Aphallia with 46 XY chromosome Karyotype, where PCR test revealed no azoospermia factor or SRY gene ( 5 ). Urorectal Septum Malformation Sequence (URSMS) is a rare syndrome whose pathogenic mechanism lies in its defect related to urorectal septum and cloacal segment division and or its cloacal membrane binding.…”

“…Aphallia or complete penis agenesis is a very infrequent congenital abnormality with dramatic psychological consequences ( 1 ). Its prevalence is estimated one per 10-30 million births ( 2 - 5 ). The reason behind it is genital tubercle development.…”

Afalia congénita: reporte de un caso y revisión de la bibliografía; de la patogenia a la reconstrucción fálica

“…En algunas series se ha reportado una asociación tan alta como 50% con otras malformaciones congénitas urogenitales: criptorquidia, agenesia renal, displasia, riñón poliquístico, riñón en herradura, agenesia prostática y de la vejiga, hidronefrosis, reflujo vesicoureteral, agenesia ureteral, hidrouréter, fístulas uretrorrectales y vesicorrectales, vejiga poliquística y riñón ectópico pélvico. 5,7,[11][12][13][14][15][16][17][18][19][20] Está descrita la asociación con otras malformaciones congénitas, como: siringomielia, espina bífida, asociación VATER, hepatomegalia, páncreas anular, insuficiencia tricuspídea, persistencia del conducto arterioso, anormalidades gastrointestinales, síndrome de abdomen de ciruela, síndrome de Potter, síndrome de Treacher Collins, retraso mental, ano imperforado, defectos musculoesqueléticos y pie equino varo. 5,7,12,[17][18][19][20]…”

“…5,7,[11][12][13][14][15][16][17][18][19][20] Está descrita la asociación con otras malformaciones congénitas, como: siringomielia, espina bífida, asociación VATER, hepatomegalia, páncreas anular, insuficiencia tricuspídea, persistencia del conducto arterioso, anormalidades gastrointestinales, síndrome de abdomen de ciruela, síndrome de Potter, síndrome de Treacher Collins, retraso mental, ano imperforado, defectos musculoesqueléticos y pie equino varo. 5,7,12,[17][18][19][20]…”

Elements of morphology: Standard terminology for the external genitalia

“…Panel A reprinted with permission from Rattan et al []. Panel B reprinted with permission from Wang et al [].…”