Sex Chromosome Rearrangement Associated With Hormonal Abnormalities and Gender Dysphoria

Although disorders arising from sex chromosome and sex steroid abnormalities are well characterized from the perspectives of endocrinology, dysmorphology, and reproductive health, relatively little is known about neuropsychiatric development, gender identity, incongruence, and dysphoria in the populations with these disorders. In this report, we describe the case of a 21-year-old gender nonbinary individual identified as male at birth who presented to an academic psychiatry consultation clinic because of life-long gender dysphoria. The patient was found to have a complex sex chromosomal rearrangement and associated hormonal abnormalities that may, at least in part, explain the patient's history. In addition to describing a novel genetic change, this case and the accompanying review of the existing literature highlight the need for an increased focus on the psychiatric perspective, and sex and gender issues in particular, among all patients with sex chromosome abnormalities and inborn errors of steroid metabolism.