Reconstructive surgery is also an option for patients with PAIS who desire improved sexual function or the creation of more “typical”-appearing external genitalia. Though historically feminizing genitoplasty was performed in PAIS patients within the rst 3 years of life [28], practice has now shifted to allow PAIS patients to delay surgery until they are old enough to make an informed decision that aligns with their chosen gender identity. Post-surgical complications are relatively uncommon but include vaginal stenosis, adhesion formation, and urethrovaginal stulae [29]. Vaginal dilation can restore adequate vaginal depth for sexual activity in some patients. Vaginoplasty exists as an option for women who fail dilation therapy and can be performed by any available technique such as McIndoe vaginoplasty using full or split-thickness skin graft or buccal mucosa, pelvic peritoneum (Davydov procedure), or Vecchietti procedure, or bowel vaginoplasty which is more invasive [30, 31]. Success rates are dependent on post-operative management and maintenance of dilation therapy until sexually activity is regular.

Discussion

AIS can be subclassi ed into complete, partial, and mild depending on the physicalndings which refect the degree of responsiveness to androgens. Complete AIS, which presents with typical female external genitalia and testes with no internal female genitalia, has a global incidence estimated to range from 1 in 20,000 to 1 in 99,000. The incidence of partial AIS has been estimated to approach 1 in 130,000, though the true incidence is dif cult to measure as partial AIS includes a spectrum of presentations with inconsistent correlations between clinical presentation and genetic testing results. Little is known about the incidence and prevalence of mild AIS, which presents with male external genitalia with possible impaired pubertal virilization or infertility, since many patients likely never seek care or are never diagnosed.

Today, one of the cornerstones of the treatment of patients with AIS is immediate disclosure at time of diagnosis to respect patient autonomy; however, this has not always been the case. Consensus among physicians in the 1950s was that “therapeutic privilege” should be exercised with AIS patients, meaning that doctors believed that withholding the potentially upsetting diagnosis of AIS was in the patient’s best interest, as concealment would “protect” the patient from the potential psychological harm that the knowledge could bring [13]. The practice of nondisclosure remained prevalent well into the 1990s, when gynecologists were still arguing that in AIS patients, “the disclosure of genotype is irrelevant to care and may be confusing to patient and family” [32]. Fortunately, practice has shifted toward full disclosure, equipping patients with all relevant information about their medical condition so that they can make informed decisions about their ensuing care. As long as disclosure is approached in a sensitive and professional manner, patients can be empowered by the knowledge of their diagnosis rather than debilitated by it.

Patient autonomy should also guide decision-making when it comes to whether and when to pursue gonadectomy in patients with AIS. Nevertheless, all AIS patients

and their parents should be made aware of potential elevated risk for gonadal malignancy at the time of diagnosis. Risk for malignancy varies depending on AIS subtypes. Because CAIS patients have been shown to carry a malignancy risk as low as 2% and tend only to develop tumors after puberty, recent recommendations support gonadectomy in late adolescence in order to maintain endogenous hormone production through puberty for adequate growth and breast development and also facilitate including patients in decision-making [14, 15, 17, 18]. For PAIS patients, due to elevated cancer risk, particularly in those with intraabdominal testes, current recommendations are for gonadectomy at the time of diagnosis [14]. In CAIS or PAIS patients who elect to forego surgery and retain their testes, monitoring with regular screening for testicular malignancy is required. Proposed screening regimens include imaging with regular US and MRI, as well as serial tumor markers and serum hormone levels [7, 19].

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