There are numerous studies of the long-term outcomes of childhood feminizing surgery demonstrating high rates of success [32, 33]. Other studies however suggest that the need for revision reconstruction is as high as 98 % [34]. Burgu et al. reviewed a 15-year experience with vaginoplasty in 63 patients of whom over 50 % had an underlying DSD diagnosis. They noted an overall complication rate of 73 % with 11 % of patients requiring a secondary procedure. The most common complications were vaginal stenosis, discharge, and prolapse of the mucosa. Skin flap vaginoplasty was the technique associated with the highest revision rate (16 %). Of those seven patients requiring revision, two had revision of the flap and five were converted to an intestinal segment neovagina. They noted a significantly higher complication rate in those undergoing surgery before puberty vs. postpuberty (57 % vs. 15 %) [35]. Hoepffner reported on 58 patients with DSD and reported a similar rate of need for revision vaginoplasty (12 %) [36]. Many advocate performing the reconstruction as a staged procedure with clitoroplasty early in life followed by vaginoplasty in adolescence or beyond given that the vagina has no functional purpose in childhood. Those in favor of early reconstruction cite the advantages of improved tissue mobility and healing along with the option to utilize the preputial tissue from the clitoroplasty to reconstruct the distal vagina [29]. Advocates of delayed reconstruction champion the ability of the patient to be involved in the discussion about gender, surgical options, and the ability to comply with postoperative care such as vaginal dilation.

In patients that have undergone early clitoroplasty, there is evidence that the clitoral sensitivity is diminished, in comparison to similar patients who have not undergone clitoroplasty [37]. Unfortunately, this issue cannot be directly addressed through revision surgery as the underlying problem, damage to the neurovascular bundles, cannot be reversed.

Another issue, patient dissatisfaction with genital cosmesis, is often raised and potentially addressed with revision surgery. In one large series, 41 % of patients reported that their perception of the overall cosmetic outcome of their reconstruction was poor [34]. Much of the cosmetic dissatisfaction centers around the size of the glans clitoris but can also focused on the labial tissue. Concerns about the labia generally relate to the relative paucity of redundancy of labial tissue. As with many cosmetic issues however, it is important to recognize that there is wide anatomic variation in female genetalia in general [38].

Surgical techniques to address vaginal reconstruction, or revise surgeries performed early in life, include the use of perineal dilation, bowel, skin, and oral mucosa [39–42]. Passive dilation of the perineum, resulting in a progressively deepened neovagina, has been accomplished with a variety of techniques such as repeated pressure with serial vaginal dilators [39], regular coitus [43], repeated pressure with a dilator attached to a bicycle seat [44], and surgically placed traction devices [45]. Peña has described techniques to mobilize the urogenital sinus as a unit, either in total or partially, to help avoid separating the vagina from the urethra [46]. This mobilization can be combined with flap-based repairs to help bridge additional distance to the perineum. A variety of bowel and skin substitution techniques have also been described. One of the earliest references from 1904 describes the use of ileum [47]. Later techniques involved similar interposition using segments of the sigmoid colon or rectum [48]. Skin, either as a split or full thickness graft, or flap has been described, typically in combination with a vaginal stent to aid in dilation [41]. Reconfiguring and dilation of peritoneum has also been successfully utilized [49]. The use of oral mucosa for revision vaginoplasty has been shown to be a successful technique, at least in the short term [42, 50]. In complex primary repairs, such as with a high urogenital sinus, or revision operations, utilizing approaches such as the posterior sagittal approach [51] and anterior sagittal transrectal approach (ASTRA) can be advantageous [52]. Early results from the ASTRA technique demonstrate a high rate of success without fistula, continence issues (urinary or fecal), or strictures [53]. As with any early repair, only prolonged follow-up will demonstrate the overall success, particularly with regard to stenosis. A multitude of other techniques and variations of older techniques have been employed with no clear consensus on the most successful approach.

The most challenging long-term complication of any vaginoplasty repair is stenosis. In less severe cases, this is often managed with vaginal dilation. More significant stenosis however, often requires surgical re-intervention. Often times, the scarring process of the stenosis limits the surgeon’s abilities to utilize local tissues in the revision repair. In these situations, the use of a substitution technique [48] or oral mucosa [42] has been successful. Long-term complication rates are difficult to quantify given the heterogeneity of the available data and tendency to report on case series and single surgeon experience. A recent systematic review evaluated 162 publications in an effort to understand the immediate and long-term success of reconstructive techniques for vaginal agenesis. Scarring was one of the most frequent complications in the graft-based repair techniques. Discharge and prolapse were more common in the substitution technique studies [54].

The presence of urinary system issues is another potential problem that results from the underlying DSD as well as reconstructive procedures. Studies in females with CAH and androgen insensitivity syndrome have shown varying results however with some citing and increased frequency of lower urinary tract symptoms (LUTS) [55] but others showing relatively equal frequencies of LUTS between those having undergone feminizing genitoplasty and controls [56].

Complications with male reconstruction occur in a bimodal distribution. Lack of long-term studies impairs our ability to understand late natural history of repairs, so our best understanding rests in studies with shorter term follow-up. These include: urethral fistula, urethral stricture, sacculation of reconstructions causing urinary stasis and recurrent infection, development of hair balls and stones in the reconstructed urethra, chordee, scarring, ejaculatory complaints, among other issues. A full discussion of long-term outcomes of hypospadias repair can be found elsewhere in this textbook in chapter 8 (Hanna and Cambareri). When reconstruction is performed later in life, the success rate can be negatively impacted, particularly with regard to wound healing, infection, complications, and overall success rates [57]. There are hundreds of described techniques for addressing the primary repair as well as revision repairs [58]. Much of the early salvage experience involved the use of local skin flaps, which has been associated with long-term failure need for additional revision [59, 60]. The use of grafts, particularly oral mucosa has proven to be a much more successful technique for addressing the salvage urethroplasty [61, 62]. The use of oral mucosa has been described for both single and multiple stage procedures with some data to suggest higher success rates for the most complex revisions using a staged technique [59]. Urinary symptoms, sexual function, and self-esteem issues are all possible and frequently require additional intervention [63]. While urinary tract outcomes for DSD patients raised as males is limited, data from the hypospadias population has demonstrated a significantly higher frequency of urinary issues such as spraying, post-void dribbling, and a sensation of incomplete emptying [64]. As the quality of long-term data improves, it is also becoming clear that adults who undergo hypospadias repair during childhood frequently have functional and emotional issues that carry into adulthood [65, 66].

For individuals with severely undervirilized male 46XY DSD conditions, advances in phalloplasty have allowed for the creation of a functional penis. The majority of this data comes from Gent University Hospital in Belgium. A recent update from this group champions the radial forearm flap as the current gold standard for phalloplasty. In their series of 316 patients, after the required two operations (phalloplasty followed by penile implant), all were able to void in a standing position and most were able to experience sexual satisfaction [67]. As a recent summary of key discussions from a prominent DSD conference highlights, the incorporation of native genital sensitivity tissues is an important consideration when deciding on phalloplasty options [68].

Masculanizing and feminizing surgery remains a topic of great debate given the potential for delayed or long-term sequelae as it pertains to sexual function, sensation, and quality of life (QOL). For clitoral surgery performed in childhood, there is data showing a reduction in the ability to achieve orgasm along with impaired sensitivity and sexual satisfaction [37, 69]. While there have been studies and techniques described to help preserve sexual function [70], there is little long-term data that definitively demonstrates preservation of sexual function following genitoplasty [37]. Data on overall QOL is more variable with most of the outcomes measured in the CAH population. Some of these studies show little to no compromise in QOL metrics [71, 72], while other studies find significant detriment to QOL as a result of surgical intervention [7]. The results of these, and other QOL studies pertaining to CAH patients, are nicely summarized in a paper by Zainuddin et al. [73].

The impact of medical and surgical management of individuals with DSD raised as males has also been shown to have long-term QOL and sexual implications. Most studies reveal a negative impact on sexual function, satisfaction, and quality of life as it pertains to hypospadias repair [74]. Similarly, studies have demonstrated lower frequency of ejaculation and orgasm in hypospadias patients [75] and a higher incidence of erectile dysfunction [76]. In one small study of patients with partial androgen insensitivity, there was notable impairment in sexual satisfaction and erectile function [77]. Overall however, the availability of long-term QOL data, as it pertains to male reconstruction specifically in DSD populations, is quite limited and thus there is little current ability to make revised treatment recommendations [78]. As recent review notes, this paucity of outcome data but advocates for proceeding with male gender assignment in undervirilized DSD patients given the positive results of long-term follow-up in transsexuals undergoing reconstruction [66].