Gender Reversal And Bilateral Giant Adrenal Myelolipomas In A 46,XX Patient With 21-Hydroxylase Deficiency: Case Report And Review Of The Literature

ABSTRACT Objective: Congenital adrenal hyperplasia (CAH) can result in hormonal changes that influence gender identification and possibly the formation of adrenal myelolipomas in rare cases. Methods: A patient case is presented with associated literature review. Results: A 46,XX patient with 21-hydroxylase deficiency who had ambiguous genitalia at birth that were surgically revised to a female phenotype is reported. The patient was intermittently compliant with glucocorticoid therapy. Years later, because of his male gender identification, he had a legal name change and gender reversal surgery to male. At age 46 he was found to have bilateral giant adrenal myelolipomas that were surgically removed. Conclusion: Treatment objectives in the care of patients with CAH include adequate glucocorticoid replacement to reduce increased corticotropin-releasing hormone and corticotropin secretion that result in hyperandrogenemia so that growth, sexual maturation, and reproductive function, as well as psychosocial development, are normal. There is also an increasing appreciation for addressing the complexities of gender identity and the timing of genital revision surgery in these patients. There is increasing anecdotal evidence that a subset of patients who are not optimally treated may develop adrenal myelolipomas. Abbreviations: 17-OHP = 17-hydroxyprogesterone ACTH = adrenocorticotropic hormone AI = adrenal incidentaloma CAH = congenital adrenal hyperplasia