SAT-443 Gender Dysphoria in a Patient With Classic Congenital Adrenal Hyperplasia

Abstract Disclosure: P. Pile: None. M. Khalifa: None. S. Rabieihashemi: None. V. Kantorovich: None. Introduction: Congenital adrenal hyperplasia (CAH) due 21-hydroxylase deficiency (21OHD) is an autosomal recessive disorder characterized by an impairment of cortisol and aldosterone synthesis. It is associated with an increase of adrenocorticotropic hormone (ACTH) secretion leading to adrenal hyperplasia and androgen excess which can cause ambiguous genitalia. In recent years, there has been increasing reports of gender dysphoria in patients with known CAH. We are presenting a case of classic CAH with gender dysphoria causing medication non-adherence. Case Presentation: A 30-year-old assigned female sex at birth with history of classic CAH (21OHD) status post vaginal reconstruction surgery at age 1 and 5 presented to the hospital with acute nausea, vomiting and abdominal pain. Physical examination was significant for hypotension, and evidence of virilization with body hair, beard and deep voice. Laboratory tests showed sodium 129 mmol/L (136-145 mmol/L) and potassium 3.8 mmol/L (3.4-5.3 mmol/L). In the emergency department, patient was treated with stress dose steroids with impression of adrenal crisis given the history of classic CAH. Upon further questioning, the patient reported multiple admissions for the same reason in the past as she was not adherent to her outpatient steroid replacement therapy. The main reason for non-adherence was concerns for lowering androgen levels with steroid therapy as the patient had been identifying as “he/him” since early adolescence. CT abdomen and pelvis showed bilateral adrenal enlargement and a 3.6x3.1 cm hyperattenuating structure in the right adnexa concerning for ovarian-adrenal rest tumor. He was discharged on glucocorticoid and mineralocorticoid replacement therapy with an outpatient follow up at transgender clinic. Discussion: Gender identity in individuals with CAH, particularly those with the 46, XX karyotype and virilizing forms of the disorder, is a multifaceted phenomenon influenced by a combination of prenatal androgen exposure, genetic predispositions and psychosocial factors. Research indicates that while most individuals with CAH align with their assigned female gender, a subset exhibits gender dysphoria or identifies as male, particularly those with more severe virilization. The interplay between early androgen exposure and later-life social and environmental factors is critical in shaping these outcomes. Conclusion: This case highlights the importance of a multidisciplinary approach to care, including endocrinologists, mental health professionals, and surgeons when appropriate, to support individualized care and need for culturally sensitive counseling and long-term monitoring of gender identity development, psychosocial well-being and quality of life in this population. Presentation: Saturday, July 12, 2025