Anatomical and Functional Outcomes of Feminizing Genitoplasty for Ambiguous Genitalia in Patients With Virilizing Congenital Adrenal Hyperplasia

Abstract

The ideal surgical technique and appropriate age for performing feminizing genitoplasty are debatable, and few long-term outcome studies have been reported. PURPOSE: To report a retrospective study on anatomical and functional outcomes of feminizing genitoplasty in patients with virilizing congenital adrenal hyperplasia. METHODS: We selected 34 patients (mean age = 3.4 ± 2.5 yr) with genital ambiguity classified according to Prader stage. Follow-up ranged from 2 to 16 years. Clitoral length ranged from 1.9 to 5.0 cm; 28 patients had a single perineal orifice, and 6 had a double orifice. The surgical technique included clitorovaginoplasty in a single procedure and was carried out before 2 years of age in 18 patients. Clitoroplasty was performed with glans preservation in all patients. Blood supply was exclusively maintained by the frenular pedicle in 97% of the cases, whereas clitoral dorsal nerves and vessels were preserved in the remaining 3%. The opening of the urogenital sinus was performed using either the Y-V perineal flap procedure (25 patients) or the cutback incision procedure (8 patients). RESULTS: Good morphological and functional results were achieved in 68% of the patients; 21% of the patients had surgical complications, such as incision bleeding (2 cases), glans necrosis (1 girl with Prader V), and vaginal introitus stenosis (4 cases). Three of the latter underwent dilation with acrylic molds in the post-pubertal period with good functional results. CONCLUSIONS: We conclude that single-stage feminizing genitoplasty consisting of vulvoplasty, clitoroplasty, and Y-V perineal flap produced good cosmetic and functional results in virilized girls with congenital adrenal hyperplasia, with few complications. In addition, this surgical approach prevented the need for neovaginaplasty even in patients with high vaginal insertion.

Report of the American Psychiatric Association Task Force on Treatment of Gender Identity Disorder

“…Additionally, genital surgery entails a significant risk of impaired sexual functioning, which has led to a rethinking of gender assignment decisions in newborns and increased conservatism regarding genitalsurgery (Hughesetal.,2006;Meyer-Bahlburg, 2002a;Preves, 1998), a process that is still ongoing. In the course of this debate, numerous outcome studies of genital surgery in individuals with DSDs have been published, which increasingly evaluate not only cosmesis (i.e., quality of the anatomic outcome) but also functional outcome (Crouch et al, 2008;Gastaud et al, 2007;Karkazis, 2008;Minto, Liao, Woodhouse, Ransley, & Creighton, 2003;Sircili et al, 2006). Yet, the surgical techniques utilized are highly variable; theexisting cross-sectionalfollow-upstudies usually involve onlymodestsample sizes ofpatientswithDSDs,often withconsiderable variability in the particular DSD syndromes represented among the subjects as well as in the ages at evaluation; RCT approaches to compare surgical techniques, even for cosmetic outcome, have not been attempted; and the existing follow-up studies commonly do not even attempt to systematically compare different surgical techniques.…”

46,XY disorders of sex development (DSD)

“…89 Feminizing genitoplasty should provide an adequate vaginal opening into the perineum, create a normal-looking vaginal introitus, fully separate the urethral from the vaginal orifice, remove phallic erectile tissue preserving glandular enervation and blood supply, and prevent urinary tract complications. 90 The most reasonable procedure for clitoroplasty is based on the concept of maintaining the clitoral glans and sensory input, which facilitates orgasm. The use of an adequate size of tissue flap is mandatory in Y-V vaginoplasty, to avoid introital stenosis.…”

“…85 In our experience, the single-stage feminizing genitoplasty consisting of clitoroplasty with the preservation of dorsal nerves and vessels and ventral mucosa, vulvoplasty and Y-V perineal flap, followed by vaginal dilation with acrylic moulds, allowed good cosmetic and functional results. 90 For those raised as males, surgery consists in orthophaloplasty, scrotumplasty with resection of vaginal pouch, proximal and distal urethroplasty and orchidopexy when necessary. Surgeries were performed in two or three steps in the patients with perineal hypospadias.…”

Childhood surgery for ambiguous genitalia: glimpses of practice changes or more of the same?

“…These were mostly small case series of unsophisticated quality with a short-term follow-up period (Canty, 1977;Donahoe & Hendren, 1984;Newman et al, 1992;Sircili et al, 2006). For example, evaluation of cosmetic appearance was often carried out by the surgeons who did the operation.…”