Review of Current Surgical Techniques and Medical Management Considerations in the Treatment of Pediatric Patients with Disorders of Sex Development

Abstract

The most common 46,XX DSD is congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, which will be presented as an example of many of the underlying challenges. Feminizing genitoplasty for CAH will be presented, but the techniques are applicable to other forms of DSD and can be used in both the infant and adolescent. The spectrum of possible surgical interventions for phallic reconstruction in the undervirilized 46,XY patient will also be presented. This paper will address the surgical options and management of this complex spectrum of anomalies, with the assumption that the parents, patient, and interdisciplinary[1] team agree that surgery is appropriate.

Gender identity, gender assignment and reassignment in individuals with disorders of sex development: a major of dilemma

“…One of the most difficult issues in a child with DSD diagnosis, particularly in case of ambiguous genitalia, is the assignment to the more appropriate gender, and, from a parent's perspective, the gender of rearing [61,62]. According to many authors, the primary goal in DSD was for gender identity to be consistent with the gender assigned and to avoid a gender assignment that would increase the risk of GD [25,35].…”

“…In this perspective, recommendations for gender assignment of children with ambiguous genitalia have been historically guided by the phenotypic appearance of the genitalia, on the basis of which sex would offer the child the best opportunity for success particularly in aesthetical, fertility, and sexual terms. Accordingly, most surgeons have recommended early surgery, in order to "normalize" the genitalia [62]. For example, a 46,XY subject judged as having an inadequate penis was assigned female, whereas a virilized 46,XX patient with ovaries and a uterus was assigned female, independently of the degree of external genitalia virilization [35].…”

“…Moreover, timing of genital surgery should be also taken into account. Families should be always made aware of and counseled about the pros and cons of early and late assignment [62]. In addition, even when recommendations for gender assignment are clear, arguments exist on whether surgery can be delayed until the individual can participate in the decision and provide consent [62].…”

“…Families should be always made aware of and counseled about the pros and cons of early and late assignment [62]. In addition, even when recommendations for gender assignment are clear, arguments exist on whether surgery can be delayed until the individual can participate in the decision and provide consent [62]. In line, some countries, as Germany, have recently introduced the possibility to legally choose "male," "female," or "x" in the public register to ease the pressure of an early assignment for newborns DSD.…”

“…In some cases, identifying and clinically managing DSDs can begin even before a child is born; such moments can be perceived as extremely stressful as these can often lead to irreversible (and irremediable) outcomes in terms of QoL, psychological and medical well-being, and sexual function and satisfaction. Therefore, MHPs should always provide information about [96,97] and inform about the results of medical examinations and about the available knowledge on gender development in similar situations [96]. Also, MHP may evaluate the parents or care givers in terms of their education, cognitive capacity, coping skills, as relevant to their ability to understand the DSD and to nurture a child with a DSD [93].…”