Related Experiment Video
Updated: Jan 15, 2026

Establishment of Rat Models Mimicking Gender-affirming Hormone Therapies
Published on: January 10, 2025
Navigating the complexity of managing coexisting inborn errors of metabolism and gender incongruence
Stephanie Newman1, Srinitya Gannavarapu2, Andrea C Yu3
1Department of Pathology and Laboratory Medicine, Western University, Canada.
Abstract:
Clinical care and management of inborn errors of metabolism (IEM) are lifelong, complex, and resource-intensive for the healthcare team, patient, and families. A cohort of individuals with IEM who in addition have gender incongruence (GI) presents a unique challenge of patient care in current practices. Here, we discuss four patients with different IEM (phenylketonuria (PKU), 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD), ornithine transcarbamylase (OTC) deficiency that presented with GI either in their adolescence or adulthood. We review their IEM management and evolving expression of GI as we highlight the influence of various clinical and psychosocial stressors, including social acceptance and self-esteem. Significant research on the comorbidity between IEM and GI has not yet received attention in the literature. Here we aim to explore this underrepresented topic to encourage expansion of knowledge and how to navigate the complex management and support to individuals with IEM experiencing GI.
More Related Videos
05:55Stable Isotope In-Vivo Labeling for Mass-Spectrometry Identification of Paternal Metabolites Transferred from Sperm to Oocyte During Fertilization
Published on: June 17, 2025
04:22Treatment Model for Young Patients with Psychogenic Erectile Dysfunction and Resultant Infertility
Published on: May 30, 2025
Related Concept Videos
Inborn Errors of Metabolism
Pharmacokinetics in Pediatric Patients: Drug Metabolism
Disorders of the Male Reproductive System
Prostate disorders are another major concern. These conditions can impair urinary flow due to the prostate's location around the urethra....
Disorders of Acid-Base Balance
Respiratory Acidosis and Alkalosis
Respiratory acidosis occurs due to an increase in the partial pressure of carbon dioxide PCO2 in the blood. It often arises from shallow breathing or impaired gas exchange caused by...
Socioemotional Experience and Gender Development
Cystic Fibrosis: Management
Sinus disease and chronic...