Santana-Ríos Z, Fernández-Noyola G, Cantellano-Orozco M, Fulda-Graue S, Pérez-Becerra R, Urdiales-Ortíz A, Merayo-Chalico C, Hernández-Castellanos V, Saavedra-Briones D, Sánchez-Turati G, Ahumada-Tamayo S, Martínez Á, Camacho-Castro A, Muñoz-Ibarra E, García-Salcido F, Morales-Montor G, Cuevas-Alpuche J, Pacheco-Gahbler C

Language: Spanish
References: 18
Page: 239-243
PDF size: 854.87 Kb.

ABSTRACT

Congenital aphallia is caused by a failure of the genital tubercle to form. It is extremely rare and there are only eighty cases reported in the literature. Clinically the scrotum is well developed, the testes are descended, and the penis is absent. The urethra emerges adjacent to the anus and in some cases within the rectum. Patients should be genetically evaluated at birth and associated malformations should be looked for. It is important to propose early sex reassignment.
Objective: To present a case of congenital aphallia and its management with urethral advancement.
Clinical case: Patient is a 14-year-old male adolescent with no perinatal antecedents. Aphallia was detected at birth and sex reassignment was proposed after genetic study was carried out, but was refused by the mother. Patient presented with recurrent urinary infections and bladder lithiasis as a child. He sought medical attention due to straining, tenesmus, and intermittence. Physical examination revealed both testes in the scrotum, short perineum, and postsphincteric urinary meatus. Patient had 46XY karyotype, urinalysis reported multiresistant urinary infection, and urodynamics reported infravesical obstructive uropathy. Imaging studies and cystoscopy showed no anatomical alterations, and no abnormal communications or Müllerian remnants. Patient underwent urethral advancement resulting in a perineal meatus with no complications and postoperative progress was adequate.
Conclusions: Congenital aphallia requires multidisciplinary management. Obstructive uropathy should be managed with urethral advancement techniques to improve micturition mechanics and to avoid damage to the upper urinary tract.

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