MON-075 Autonomy and Self-Determination in a Patient with XY Gonadal Dysgenesis

Abstract

Background:XY gonadal dysgenesis is characterized by the presence of male chromosomes with atypical testes differentiation. Due to an impaired ability to make testosterone, patients are often under-virilized at birth and present with ambiguous genitalia. For multidisciplinary teams specialized in disorders of sex development (DSD), gonadal dysgenesis presents challenges in sex assignment, initiation of hormonal therapy, and timing of surgical interventions. Recent discussions have reconsidered early interventions in favor of preserving self-determination in decisions regarding gender and anatomy.Case:LT initially presented at 3 years old, after her grandmother noted her abnormal appearing genitalia. Examination revealed clitoromegaly, 1.8 cm in length and 0.8 cm in width, with a blind, open introitus. XY gonadal dysgenesis was diagnosed, based on a pelvic MRI, cystourtheroscopy/vaginoscopy, genetic and hormonal testing.LT was lost to follow-up for 6 years. At 11 years old, LT had been consistently raised as a female. When asked about gender identity, LT’s understanding of gender identity developed over time. At 11 years old, LT declared her gender identity as a “boy”, because boys are “strong”, and because she did not like make-up. LT denied any desire for breast development and explained that her family told her that breasts ‘make it hard to run fast.’On follow-up evaluation 6 months later, LT voiced her decision to be a girl, and said that she was very confident in this decision. LT and her parents both desired estrogen therapy for induction of puberty. After discussions regarding the permanent effects of therapy, LT started hormone therapy. Two months after initiation of therapy, she remained firm in her gender identity and expressed a desire to grow her hair long. She independently stated that she did not desire surgery at this time. She will receive formal psychological testing at her next clinical evaluation to evaluate her for body dysmorphia, anxiety, and depression.DiscussionLT’s case demonstrates the progression of developmental understanding of gender and expressed gender identity that may occur as learning progresses in patients with DSDs. This case also shows that a delay in surgery may not have significant developmental consequences to these patients as was previously suggested. In general, the American medical system has tended to perform early sex assignments and surgical interventions to align anatomy with the sex assignment. However, after thoughtful discussions regarding human rights concerns, many have recommended to delay surgical interventions until adolescence, when the patient can consent appropriately to interventions that cause permanent anatomic changes. As many of these interventions may be discussed in early adolescence, it is of the utmost importance that information is presented in an understandable and developmentally appropriate manner.