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

• Published in: Zhongguo quanke yixue Vol. 26; no. 21; pp. 2690 - 2694
• Main Author: RAO Yufeng, MENG Liheng, ZHOU Jia, LIANG Xinghuan, HUANG Zhenxing, QIN Yingfen
• Format: Journal Article
• Language: Chinese
• Published: Chinese General Practice Publishing House Co., Ltd 01.07.2023
• Subjects: adrenocortical adenoma|steroid 21-hydroxylase|glucocorticoids|gender identity|case reports
• ISSN: 1007-9572
• DOI: 10.12114/j.issn.1007-9572.2022.0723

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 disa