androgen insensitivity syndrome, extreme forms of micropenis or PAIS with poor response to androgen stimulation, 5-α reductase deficiency, 17-hydroxysteroid dehydrogenase deficiency, LH receptor deficiency, and complete gonadal dysgenesis.
This surgery includes three main steps. The first step involves creation of a vaginal conduit by connecting an existing müllerian cavity to the pelvic floor, or by dilating an existing vaginal cup, or by creating a penetrative conduit de novo. There is no consensus regarding the timing of this surgery. The second step consists of GT reduction which is also subject to controversies as this surgery may jeopardize GT sensitivity. A better understanding of the nerve distribution of the GT has led to major changes in the surgical procedures (a paradox of this surgery is that outcomes will be assessed many years in the future, when the patient becomes an adult). The third step is refashioning the perineal anatomy.
Other procedures essentially include gonadal surgery and surgery of the müllerian remnants.
The Gonads
Abnormally formed gonads are at risk of developing malignancies. This risk varies with the nature of the DSD. The highest risks are mostly of mixed gonadal dysgenesis, pure gonadal dysgenesis, and Frasier and Drash syndromes. The tumor, when it arises, develops from the testicular contingent of the gonads [32]. These abnormal gonads can be either brought down into the scrotum to allow close follow-up or removed. Many patients will require some form of hormonal supplementation at the age of puberty and beyond if gonadectomy is elected.
Uterine Remnants
Removing uterine remnants is advisable when the male gender is assigned as they may start bleeding at puberty with the influence of aromatase conversion of steroid hormones. Removing utricular cavities is sometimes necessary if the patient becomes symptomatic (dysuria, urinary tract infection). This surgery is usually performed laparoscopically, with special attention to the vasa deferentia, which are often closely attached to the utricular walls.
Results of Surgery
Results of masculinization surgery are evaluated according to the cosmetic aspects of the reconstructed GT, and its function, in terms of both transurethral urinary flow and sexual performance. It therefore requires a very long follow-up, through childhood, puberty, and adulthood. It is actually very difficult to get an objective idea of the results of the surgery because patients’ views often differ from surgeons’ views. Urine flow studies are unreliable because the material used for replacing the deficient urethra is different from normal urethral walls and because patients who received urethral surgery, especially children, commonly have dys-synergic micturition for a long time postoperatively. The capacity of children to tolerate dysuria is remarkable, and it is enhanced by the fear of having to undergo another surgical operation. Absence of a urinary tract infection and complete bladder emptying, checked by ultrasound scans, with no deterioration of the whole urinary tract, are probably the most reassuring criteria to assess the outcome of these reconstructions. The reported results on sexual life after early surgery are scarce and subjective. Questions remain about the sensitivity of the glans after hypospadias or clitoral surgery [7]. The number of operations certainly affects the patient’s confidence to enter adult sexual life. Ejaculatory anomalies are variable between 6 and 37% of operated individuals. There is no convincing data on impaired fertility.
Virilization of the female genitalia may vary widely in severity. Simple clitoromegaly or very distal entrance of the vagina into the urogenital sinus may require no treatment. Issues of an appearance of gender typicality have been debated for parent and patient concerns, with the risk for genital sensory function weighed against cosmesis. Timing, staging, and separating clitoroplasty and vaginoplasty (allowing patient input and decreasing unwanted surgery and revisions) continue to be at issue. In more virilized forms (as the vagina enters the urogenital sinus more proximally and nearer the bladder neck), typical intercourse may be impossible. Reconstructive surgery may be necessary to establish sexual capability. Feminizing genitoplasty may require multiple revision surgeries; 50-79% of patients require a second procedure. Third and fourth procedures are not uncommon for adequate vaginal construction which allows intercourse. As the procedure is not assuredly successful, only 77% of those who had this surgery ultimately have an adequate vaginal introitus on long-term follow-up. Scarring at the introitus or of the entire vaginal segment has been a problem. This complication is most prevalent when local skin flaps and squamous epithelial grafts are used to create portions of the vagina and in some cases the entire vagina (neovagina) [5, 6].
Outcome of Micropenis
Here again, data are rare and reported series are short. Patients seemed to be satisfied with their sex of rearing, although they complained about the size of their penis with regard to the ability to urinate and direct the stream, appearance in the changing room, and during vaginal intercourse. Other studies do not report any major concerns and do report a rather good quality of life [33, 34].
Outcome of Phalloplasty
Present data only concerns adult patients. A lot more detailed information concerning child and adolescent outcomes needs to be discovered in this very specific group.
References
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2 Jost A: Basic sexual trends in the development of vertebrates. Ciba Found Symp 1978:5–18.
3 Yucel S, Liu W, Cordero D, et al: Anatomical studies of the fibroblast growth factor-10 mutant, Sonic Hedge Hog mutant and androgen receptor mutant mouse genital tubercle. Adv Exp Med Biol 2004;545:123–148.
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5 Ogilvie CM, Crouch NS, Rumsby G, Creighton SM, Liao LM, Conway GS: Congenital adrenal hyperplasia in adults: a review of medical, surgical and psychological issues. Clin Endocrinol (Oxf) 2006:64:2–11.
6 Alizai NK, Thomas DF, Lilford RJ, Batchelor AG, Johnson N: Feminizing genitoplasty for congenital adrenal hyperplasia: what happens at puberty? J Urol 1999:161:1588–1591.
7 Minto CL, Liao LM, Woodhouse CR, Ransley PG, Creighton SM: The effect of clitoral surgery on sexual outcome in individuals who have intersex conditions with ambiguous genitalia: a cross-sectional study. Lancet 2003;361:1252–1257.
8 Kalfa N, Philibert P, Sultan C: Is hypospadias a genetic, endocrine or environmental disease, or still an unexplained malformation? Int J Androl 2009;32:187–197.
