Clinical Case DiscussionsSex Chromosome Rearrangement Associated With Hormonal Abnormalities and Gender DysphoriaCordner, Zachary A. MD, PhD; Mu, Weiyi ScM; Schmidt, Chester W. MD; Kraft, Chris PhD; Thomas, Kate PhD Author Information CORDNER, SCHMIDT, KRAFT, and THOMAS: Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD MU: Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD The patient provided written, informed consent for the release of the health information contained in this report. The authors declare no conflicts of interest. Please send correspondence to: Zachary A. Cordner, MD, PhD, Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Meyer Building 4-1198, Baltimore, MD 21287 (e-mail: [email protected]). Journal of Psychiatric Practice 29(1):p 71-76, January 2023. | DOI: 10.1097/PRA.0000000000000679 Buy Metrics Abstract 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. Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.