Phenotypically Male Congenital Adrenal Hyperplasia Patient with Huge Space-occupying Adrenal Masses: a Case Report and Literature Review

Abstract

Congenital adrenal hyperplasia (CAH) is an autosomal recessive genetic disease encompassing enzyme deficiencies in the process of adrenal steroidogenesis, which leads to adrenal cortex dysfunction. Hypersecretion of corticotrophin-releasing hormone and insufficient cortisol production often lead to enlarged adrenal glands. Existing studies have reported that most of space-occupying adrenal masses in CAH are benign, only very few are malignant. It is difficult for clinicians to distinguish the nature of space-occupying adrenal masses, and physicians have insufficient experiences in treating the disease. We reported a phenotypically male case of CAH with huge space-occupying adrenal masses and reviewed relevant literature, aiming to provide evidence on the diagnosis and treatment of this disease for clinicians. The space-occupying adrenal masses in CAH often show tumor-like hyperplasia before diagnosis and treatment or effective hormone replacement therapy, but most of them will be significantly reduced or disappear after glucocorticoid replacement therapy. But a follow-up of several years showed that space-occupying adrenal masses in the CAH patient encountered by us had no significant changes and no significant impact on the patient's body, even without effective drug intervention.

Keywords

• adrenocortical adenoma|steroid 21-hydroxylase|glucocorticoids|gender identity|case reports