The role of imaging in congenital adrenal hyperplasia.

Abstract

Congenital adrenal hyperplasia (CAH) is an autossomic recessive disorder caused by impaired steroidogenesis. Patients with CAH may present adrenal insufficiency with or without salt-wasting, as well as various degrees of virilization and fertility impairment, carrying a high incidence of testicular adrenal rest tumors and increased incidence of adrenal tumors. The diagnosis of CAH is made based on the adrenocortical profile hormonal evaluation and genotyping, in selected cases. Follow-up is mainly based on hormonal and clinical evaluation. Utility of imaging in this clinical setting may be helpful for the diagnosis, management, and follow-up of the patients, although recommendations according to most guidelines are weak when present. Thus, the authors aimed to conduct a narrative synthesis of how imaging can help in the management of patients with CAH, especially focused on genitography, ultrasonography, computed tomography, and magnetic resonance imaging.

• Authors: Sara Reis Teixeira, Paula Condé Lamparelli Elias, Marco Túlio Soares Andrade, Andrea Farias Melo, Jorge Elias Junior
• Journal: Arquivos brasileiros de endocrinologia e metabologia (Arq Bras Endocrinol Metabol) Vol. 58 Issue 7 Pg. 701-8 (Oct 2014) ISSN: 1677-9487 [Electronic] Brazil
• PMID: 25372578 (Publication Type: Journal Article, Review)

Topics

• Adrenal Hyperplasia, Congenital (diagnosis, diagnostic imaging)
• Diagnostic Imaging (methods)
• Follow-Up Studies
• Humans
• Magnetic Resonance Imaging (methods)
• Tomography, X-Ray Computed (methods)
• Ultrasonography