Date Published: June 20, 2012
Publisher: Hindawi Publishing Corporation
Author(s): Blake W. Palmer, William Reiner, Brad P. Kropp.
Boys with undermasculinized external genital and/or 46,XY disorders of sex development (DSD) often receive masculinizing genitoplasty. Such procedures are done to correct ventral curvature of the phallus, reposition a proximally located urethral meatus, and cosmetically correct the appearance of labioscrotal folds. No studies to date have assessed if patients with a specific DSD diagnosis have worse outcomes for severe proximal hypospadias procedures or whether or not these patients require more extensive surgical maneuvers than severe proximal hypospadias patients without a specific DSD diagnosis. We retrospectively reviewed consecutive proximal hypospadias repairs performed at our institution from 1998 to 2010 and compared the anatomy, surgical technique required for repair, and outcomes in patients with and without a definitive DSD diagnosis. Boys with a specific DSD diagnosis do have significantly more atypical anatomy when undergoing proximal hypospadias masculinizing genitoplasties. They are more likely to require associated gonad procedures but do not have an increased risk of complications or number of surgeries when compared to other proximal hypospadias patients without a specific DSD diagnosis. The risk of complications is consistent with reports in the literature, and the mean number of procedures in this contemporary study is fewer than in historic reports.
Boys with undermasculinized external genital development and/or a 46,XY disorder of sex development (DSD), including proximal hypospadias, often receive masculinizing genitoplasty. This procedure is done to correct ventral curvature of the phallus, reposition a proximally located urethral meatus, and cosmetically correct the appearance of external genitalia and labioscrotal folds. Need for genitoplasty can be associated with the need for such gonad operations as a biopsy when it will assist in making an accurate DSD diagnosis, gonadectomy in those cases at risk for gonadoblastomas and/or orchiopexy in those patients with associated cryptorchidism .
We retrospectively reviewed consecutive proximal hypospadias repairs performed at our institution from 1998 to 2010. Patients were included if their initial meatal location was on the proximal portion of the shaft of the phallus or in a penoscrotal or perineal location. Patients were excluded if they had a distal or midshaft location of their hypospadias. Epidemiologic data was collected, including age at first surgery. Karyotype and specific DSD diagnosis were noted on all patients for whom this information was available. Anatomical data consisted of the meatal location at the time of surgery before intervention and gonad location at 9 months of age. Surgical data were collected regarding whether the procedure was planned to be done in 2 stages or not; if a urethral cutback was necessary because of deficient or dysplastic ventral skin and spongiosum; whether or not and how many Nesbit plication sutures were necessary to correct ventral angulation; whether or not the urethral plate was divided to correct ventral curvature; if corporal body grafting was done to correct ventral curvature; type of urethroplasty or scrotoplasty necessary; number and type of gonad procedures performed; number and type of postoperative complications; number and type of hypospadias procedures performed. Clinical data were assessed for length of follow-up and long-term complications.
In this cohort, 102 patients were identified that met our study criteria with a urethral meatus in the proximal shaft, penoscrotal, or perineal location. A specific DSD diagnosis was identified in 17 patients (group 1), with mixed gonadal dysgenesis (MGD) in 35.3%, partial androgen insensitivity syndrome (PAIS) in 29.4%, other chromosomal abnormalities (3q12 addition and partial deletion of chromosome 1) in 11.8%, and Leydig cell aplasia, Klinefelter’s variant, Opitz-Frias Syndrome, and VATER variant in 5.9% each (Table 1). The rest of the cohort without a specific DSD diagnosis was the comparison (group 2).
Although most boys with a diagnosis of 46,XY DSD with an undermasculinized phallus and scrotum require proximal hypospadias repairs to masculinize their external genitalia, to our knowledge, this is the first paper to show that having a specific DSD diagnosis does not result in worse surgical outcomes. The two groups are similar in age at surgery in this paper. The trend toward an older age at initial surgery in the group with a specific diagnosis (group 1) could be related to delay in definitive care to ensure a full DSD evaluation is completed and the parents have decided upon a sex of rearing. One patient in group 1 was an outlier for age at initial surgery for this reason and was not operated on until after puberty.
Boys with a specific DSD diagnosis do have significantly more atypical genital anatomy prior to receiving surgeries for their proximal hypospadias than do 46,XY boys with proximal hypospadias without a specific DSD diagnosis, and they also are more likely to require associated gonad procedures. However, these boys do not have an increased risk of surgical complications or number of surgeries received. The risk of complications associated with genitoplasty in our cohort is consistent with contemporary reports in the literature and superior to historical reports indicating improvements in surgical outcomes over time.