From the Guidelines
Imaging is not the primary diagnostic tool for congenital adrenal hyperplasia (CAH), but it may be used in certain situations to support diagnosis and management. When considering imaging for CAH, it's essential to prioritize the most recent and highest quality studies. However, the provided study 1 focuses on arterial hypertension and does not directly address CAH. Despite this, we can infer that imaging of the adrenal glands can be carried out using CT, magnetic resonance imaging, or isotopic techniques using radio-labelled cholesterol, as mentioned in the study 1. Some key points to consider when using imaging for CAH include:
- Ultrasound can be helpful in newborns with ambiguous genitalia to evaluate internal reproductive structures
- Adrenal imaging with CT or MRI might be performed to assess adrenal gland size and to look for adrenal tumors or hyperplasia in some patients
- Renal ultrasound may occasionally be used to check for complications in salt-wasting forms of CAH
- Prenatal ultrasound might monitor for signs of genital virilization in pregnant women carrying fetuses at risk for CAH It's crucial to note that laboratory testing of 17-hydroxyprogesterone levels and ACTH stimulation tests remain the cornerstone of CAH diagnosis, with imaging playing only a supportive role in specific clinical scenarios. In the context of real-life clinical medicine, it's essential to use imaging judiciously and in conjunction with other diagnostic tools to ensure accurate diagnosis and effective management of CAH.
From the Research
Imaging for Congenital Adrenal Hyperplasia
- Imaging techniques such as genitography, ultrasonography, computed tomography, and magnetic resonance imaging can be helpful in the diagnosis, management, and follow-up of patients with congenital adrenal hyperplasia (CAH) 2.
- Characteristic imaging findings can be observed in adult patients with poorly controlled CAH, resulting from adrenocorticotrophic hormone stimulation or the effects of cortisol precursor excess on various target organs 3.
- The use of imaging in CAH is mainly focused on detecting complications such as testicular adrenal rest tumors and adrenal tumors, which are more common in patients with CAH 2, 4.
- Imaging features of CAH can include adrenal gland abnormalities, such as hyperplasia or tumors, as well as changes in other organs affected by the hormonal imbalances caused by the disease 3.
- While imaging can be a useful tool in the management of CAH, the diagnosis is typically made based on hormonal and genetic evaluations, and imaging is used as a complementary tool to guide treatment and monitor for complications 2, 5, 6.