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

Abstract

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 dev...