Pediatric Case Report De Castro Technique Used to Create Neophallus: A Case of Aphallia Katie H. Willihnganz-Lawson, Bahaa S. Malaeb, and Aseem R. Shukla We report on a rare case of aphallia in an X, Y-born male treated at our institution. The child underwent phalloplasty at 5 years of age using the De Castro phalloplasty technique and an abdominal skin flap. Although moderate distal necrosis was seen, the overall immediate and 12-month postoperative results were highly encouraging for our patient. Thus, this technique should be seen as a temporizing reconstructive option for patients with aphallia. Long-term follow-up is necessary to determine whether the neophallic size augments with axial growth and the need for additional intervention to facilitate onset of sexual activity. UROLOGY 79: 1149 –1151, 2012. Published by Elsevier Inc.
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phallia, or the congenital absence of the penis, is a rare abnormality. It has been documented in the published data in ⬍100 cases.1 Aphallia is a sporadic anomaly of the genital tubercle, usually associated with a normal male karyotype and no abnormalities in gonadal development or sexual hormonal metabolism.1,2 Because the penis plays an important role in urinary function, fertility, and psychosocial development, its absence can be a devastating condition for the patient and his parents, both physically and psychologically. Neophallus creation presents one of the most challenging reconstructive cases for the pediatric urologist, typically requiring the use of a radial forearm or other types of musculocutaneous free flap transfers, with varying results.3 De Castro et al4 recently described a novel phalloplasty that relies on an abdominal skin flap in continuity with its adjacent blood supply. This procedure is presented as less complex than free flaps and not requiring intensive multidisciplinary effort. We recently used this technique in the care of a boy with classic aphallia and present the first experience with the abdominal flap technique after De Castro et al,4 as well as our intermediateterm results.
CASE REPORT The boy was born prematurely at 36 weeks’ gestation by normal spontaneous vaginal delivery in February 2005. His prenatal course had been complicated by oligohydramnios, and on initial examination the infant was found to have aphallia with a normal scrotum, bilateral palpable testes and a very small perineal fistula for a From the Division of Pediatric Urology, Univeristy of Minnesota Amplatz Children’s Hospital, Department of Urology, University of Minnesota Medical Center, Minneapolis, Minnesota Reprint requests: Aseem R. Shukla, M.D., Division of Pediatric Urology, Univeristy of Minnesota Amplatz Children’s Hospital, Department of Urology, University of Minnesota Medical Center, 420 Delaware Street Southeast, MMC 394, Minneapolis, MN 55455. E-mail:
[email protected] Submitted: September 13, 2011, received (with revisions): October 5, 2011
Published by Elsevier Inc.
urethra. Additional imaging studies found a multicystic horseshoe kidney with abnormal architecture and 2 distorted collecting systems—suggesting a multicystic dysplastic kidney. No ureters or bladder were identified. The infant was diagnosed with renal failure, and peritoneal dialysis was begun shortly after birth. At 22 months of age, the boy underwent a cadaveric renal transplant with cutaneous ureterostomy for diversion. After multiple episodes of stenosis of the ureterocutaneous anastomosis, at 30 months old, he underwent takedown of the ureterostomy and creation of a catheterizable stoma from terminal ileum and a modified Florida pouch using the right and transverse colon.5 At about 5 years of age, the patient started to become aware of the anatomic differences between him and the other boys his age, and the situation of aphallia became distressing for his family. After reviewing the different treatment options, the family agreed to proceed with construction of a neophallus using the De Castro abdominal flap technique.4 To begin the procedure, the child was placed in the supine position with the lower extremities abducted in the “frog-legged” position, and the abdominal wall skin was measured below a previous midline scar (Fig. 1). A quadrangular skin flap of 6 cm ⫻ 7 cm based on the superficial epigastric vasculature was marked. The marked skin lines were then taken down sharply through subcutaneous fat to the aponeurosis of the external oblique. Next, taking care to avoid injury to the spermatic cord structures on either side of the skin flap, additional dissection was completed. The edges of the skin incision were raised laterally and proximally to ensure closure of the abdominal wall incision, which was performed by everting mattress sutures in a Y-shaped plasty, using 4-0 polydiaxanone sutures at the points of tension. The skin flap was then rolled over a 14F nonlatex catheter and closed in 2 layers: 4-0 polyglactin suture for the inner layer and 5-0 polydiaxanone for the outer layer (Fig. 2). The phallic tip was tapered to create a conical 0090-4295/12/$36.00 doi:10.1016/j.urology.2011.10.004
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Figure 1. Aphallia with normal scrotum. For neophallus creation, skin flap based on superficial epigastric vasculature marked below previous midline scar.
Figure 2. Skin flap rolled over 14F nonlatex catheter and closed in 2 layers.
glanular shape. In an attempt to reconstruct the coronal margin, a circumferential incision was taken down to the level of the dermis, but not beyond, to avoid injury to the subdermal plexus. Everting vertical mattress sutures were then used to close the circumferential incision. At the end of the procedure, the phallus measured approximately 8 cm (Fig. 3). The 14F tube was left in the phallus to act as a wound drain. At his 12-month follow-up visit, 3 cm of the distal neophallus had regressed and the conical, glanular shape was not fully preserved. Still, with an age-appropriate 5-cm phallus, the patient and parents were highly satisfied and aware of the potential need for reconstruction in the future.
COMMENT Aphallia is an extremely rare disorder, with an incidence of about 1 in 10-30 million births.1 The typical phenotype is associated with a normal-appearing scrotum, functioning testes, and the absence of a penile shaft. The anus 1150
Figure 3. Circumferential incision closed by everting vertical mattress sutures to simulate look of coronal margin. Phallus length was 8 cm.
is usually displaced anteriorly, with the urethral opening at the anal verge usually adjacent to a small skin tag. In some cases, the urethra might connect to the rectum.1 Aphallia can also be associated with other genitourinary abnormalities, such as cryptorchidism, vesicoureteral reflux, horseshoe kidney, renal agenesis, imperforate anus, and other abnormalities of musculoskeletal and cardiopulmonary systems.2 A review of 60 cases by Skoog and Belman6 found that the more proximal the urethral meatus, the greater the incidence of other anomalies and the greater the likelihood of neonatal death. Historically, gender reassignment was considered the most appropriate choice for children with aphallia. The need for a full evaluation by a team dedicated to disorders of sexual differentiation is clear, and a full psychosocial and endocrinologic evaluation is mandatory. Male assignment might be prudent, because studies have shown that most of these patients have a male gender identity despite reconstruction as a female—presumably influenced by prenatal and early postnatal androgen imprinting.7 Reiner8 found that genetic males with male-typical prenatal androgen effects had a high likelihood of recognizing a male sexual identity in the absence of a penis or in the presence of a vulva with disorders of sexual differentiation. Therefore, patients with aphallia should be raised as males despite limited experience with phalloplasty. Phalloplasty for traumatic penile amputation has been reported in both adolescents and children using various techniques.9 However, most involve a complicated procedure requiring a skilled team of physicians, performed only at a few highly specialized centers. A case review by De Castro et al4 described 4 postpubertal children with aphallia who underwent reconstruction using a quadrangular abdominal skin flap for phalloplasty, followed by urethroplasty with either a bladder or buccal free graft. This technique is indicated only for patients without a midline scar from previous surgery. An otherwise reasonable alternative for patients with a midline scar is the UROLOGY 79 (5), 2012
pedicle island groin flap, as described by Perovic´.3 An anterior-sagittal-transanorectal approach by De Castro et al4 was used to separate the urethra from the rectum. Our patient had no functional bladder or urethra; thus, a buccal mucosa-based inner lining for the flap was not required. Although the surgical outcome we have described is not definitive—a functional phallus will require placement of a penile prosthesis and perhaps additional augmentation— the creation of a simple, cosmetically acceptable, vascularized neophallus can dissipate some of the profound psychosocial ramifications of the devastating anomaly of aphallia.
CONCLUSIONS To our knowledge, we present the first case of neophallus reconstruction using the De Castro flap after the pilot description in 2007. A larger experience and longer follow-up is needed to evaluate the long-term potential of this technique, viability at onset of sexual activity and need for follow-up.4 Our experience corroborates the initial experience, ease of the technique, immediate psychosexual benefits, and extended viability of the neophallus. We continue to await longer term outcome re-
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sults to assess its versatility for additional reconstruction as the children grow. References 1. Evans JA, Erdile LB, Greenberg CR, et al. Agenesis of the penis: patterns of associated malformations. Am J Med Genet. 1999;84:47-55. 2. Palmer J. Abnormalities of the external genitalia in boys—aphallia. In: Wein MD, ed. Campbell-Walsh Urology, vol. 4, 10th ed. Philadelphia: Elsevier Saunders; 2011:3543-3544. 3. Perovic´ S. Phalloplasty in children and adolescents using the extended pedicle island groin flap. J Urol. 1995;154:848-853. 4. De Castro R, Merlini E, Rigamonti W, et al. Phalloplasty and urethroplasty in children with penile agenesis: preliminary report. J Urol. 2007;177:1112-1116. 5. Lockhart JL, Powsang JM, Persky L, et al. A continent colonic urinary reservoir: the Florida pouch. J Urol. 1990;144:864-867. 6. Skoog SJ, Belman AB. Aphallia: its classification and management. J Urol. 1989;141:589-592. 7. Diamond M, Kaul K, Ignatoff J. Pediatric management of ambiguous and traumatized genitalia. J Urol. 1999;162:1021-1228. 8. Reiner WG. Gender identity and sex-of-rearing in children with disorders of sexual differentiation. J Pediatr Endocrinol Metab. 2005; 18:549-553. 9. Selvaggi G, Bander A. Penile reconstruction/formation. Curr Opin Urol. 2008;18:589-597.
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