The role of imaging in congenital adrenal hyperplasia.
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.
Division of Radiology, Clinical Hospital, Ribeirao Preto Medical School, University of Sao Paulo, Ribeirao Preto, SP, Brazil.
Sara Reis
SR
Teixeira
Department of Internal Medicine, Division of Endocrinology, Clinical Hospital, FMRP-USP, Ribeirao Preto, SP, Brazil.
Paula Condé Lamparelli
PC
Elias
Division of Radiology, Clinical Hospital, Ribeirao Preto Medical School, University of Sao Paulo, Ribeirao Preto, SP, Brazil.
Marco Túlio Soares
MT
Andrade
Division of Radiology, Clinical Hospital, Ribeirao Preto Medical School, University of Sao Paulo, Ribeirao Preto, SP, Brazil.
Andrea Farias
AF
Melo
Division of Radiology, Clinical Hospital, Ribeirao Preto Medical School, University of Sao Paulo, Ribeirao Preto, SP, Brazil.
Jorge
J
Elias Junior
D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000000981:diagnostic imaging; D003952:Diagnostic Imaging / Q000379:methods*; D005500:Follow-Up Studies; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D014057:Tomography, X-Ray Computed / Q000379:methods; D014463:Ultrasonography