Taylor_Speroff's Clinical Gynecologic Endocrinology and Infe

292 Section II • Clinical Endocrinology

Currently, there are no universally accepted guidelines for gender assignment. The Consensus Statement on the Management of Intersex Disorders offered numerous specific conclusions and recommendations. 115 Guidelines published by another group separate decisions regarding gender assign ment from those regarding genital surgery. 604 The Intersex Society of North America, a peer support, education, and advocacy group founded and operated by and for intersexu als also has published recommendations, emphasizing the importance of avoiding harmful or unnecessary surgery, qual ified professional mental health care for the child and family, and empowering patients by helping them to understand their condition and to choose or decline medical interventions. Although expert opinions and recommendations vary, the guiding principles can be summarized as follows: ● ● Gender assignment and sex of rearing should be based on the most probable adult gender identity and the potential for adult function. ● ● Decisions should respect the family’s own values and preferences. ● ● Children should be raised in the predicted and selected gender role but should also participate actively in longer term gender decisions. There is general agreement on some issues. Almost all vir ilized 46,XX children with CAH should be raised as females, primarily because more than 90% identify as females as adults, and 46,XX infants having essentially normal male external genitalia probably should be raised as males. When female gen der is assigned, clitoral surgery probably is best delayed until the child expresses gender identity and can participate in the decision. When male gender is assigned, phallic reconstruction can be performed at a time acceptable to the family and to the surgeon while still permitting a later change in gender decision by the adult patient. Finally, purely cosmetic surgery should be postponed until the patient can participate in the decision. Long-Term Care Patients with DSD and their families should receive ongoing sup port to help in their psychosexual development. Support groups offer many affected patients useful information and insights and include the Intersex Society of North America (www.isna.org), the Androgen Insensitivity Syndrome Support Group (www. aissg.org), Bodies Like Ours (www.bodieslikeours.org), and The Magic Foundation (www.magicfoundation.org). Patients having all or part of a Y chromosome whose gonads are located in the abdomen are at significant risk for develop ing a gonadal tumor. Consequently, they should be removed or, when possible and appropriate, moved to the scrotum, soon after diagnosis, except in those with complete AIS, in whom surgery generally is best postponed until after puberty.

Gender Decisions In some cases, the decision is relatively straightforward, such as in mildly virilized girls with CAH. However, in many, the influence of sex assignment and rearing on ultimate gender identity cannot be predicted confidently, primarily because there are few data regarding long-term outcomes to guide the decision. 592–594 Traditional approaches have focused on early gender assignment and reconstructive surgery, but many now advocate postponing surgery until the patient can par ticipate in the decision, when possible. 595 The traditional approach was based on the assumptions that gender identity reflects gender assignment and the sex of rearing and can be imposed; that preservation of fertility (if possible), sexual function, and appearance should be the primary goals; and that a good anatomical result will translate to a healthy adap tation and patient satisfaction. Consequently, virilized female infants were assigned a female sex and underwent staged gen ital reconstruction during infancy, and undervirilized boys often were managed similarly, based on judgments regard ing the feasibility of constructing a penile urethra. 596 These traditional principles were promulgated by the American Academy of Pediatrics as recently as 2000, 597 but an interna tional (American and European) consensus conference con ducted in 2006 has questioned their wisdom, 115 citing the lack of evidence that early genital surgery effectively reinforces gender assignment or influences gender identity or that geni tal appearance directs gender role decisions in adults. Vocal advocates have argued passionately that reconstructive sur gery should be delayed until the patient can participate in the decision, but whether most affected adults agree is unknown. Available data from long-term studies reflecting the tradi tional approach to gender assignment must be interpreted cau tiously, because many of the most discontented affected adults may have declined to participate. Studies involving patients who had early feminizing surgery indicate that many had a poor cosmetic result and most required further surgery 598 and that sexual dysfunction is common among women who under went clitoral surgery as infants or children. 599 Surgical tech niques have improved, 600,601 but long-term outcomes remain uncertain. Two studies of long-term psychosocial outcomes in patients with 46,XY DSD found that half were living as men and half as women and that the two groups did not differ in satisfaction with their appearance, function, or sex of rear ing. 451,602 Most patients assigned a female gender were satisfied with their sex of rearing, but only half had exclusively hetero sexual interests. Overall, half felt they did not have adequate information about their medical histories. 451,602 Whereas these data suggest that early gender assignment based on appear ance usually results in a healthy psychosocial adjustment and outcome, the studies focused primarily on patients having limited potential for virilization. In contrast, patients having significant potential for virilization, such as those with steroid 5 α -reductase or 17 β -hydroxysteroid dehydrogenase deficien cies, do not readily accept female gender assignment. 603

Long-term care also must consider the potential effects of sex steroid exposure, the possibility and effects of a changing hormone environment at puberty, and the need for timely and effective sex steroid therapy. Copyright © 2019 Wolters Kluwer, Inc. Unauthorized reproduction of the content is prohibited.