Endocrine Abstracts

Background: Persons with CAH may be at increased risk of developing adrenal myelolipomas, particularly if their CAH is poorly controlled. Adrenal masses can be detected by ultrasound with high sensitivity and specificity. Contrast-enhanced ultrasound (CEUS) may be a useful method in the diagnostic work-up of adrenal mass with excellent sensitivity for the diagnosis of malignancy. However, ultrasound is not included in the diagnostic algorithm of patients with CAH.

Case Report: A 50-year-old man with CAH due to 21-OH-deficiency presented with increasing abdominal girth and abdominal pain. An abdominal ultrasound showed hyperechoic adrenal masses (3.6×9.5 cm in the right, 10.4×10.4 cm in the left gland), in B-mode and CEUS consistend with myelolipomas. On MRI the diagnosis of mesenchymal tumor or sarcoma was suspected. Because of suspected malignancy a bilateral adrenalectomy was performed, histopathology revealed the diagnosis of benign bilateral myelolipoma.

Discussion: Adrenal myelolipoma has been described in CAH and is a rare benign tumor formed by mature fat tissue admixed with hematopoetic elements. Ultrasound becomes more important in diagnosis of adrenal masses, especially in combination with CEUS. So far, there is no screening for adrenal masses in patients with CAH. In B-mode and Doppler mode myelolipomas are described with homogenous mostly hyperechoic tissue lacking signs of hypervascularisation or irregular tumor vessels, contrast-enhanced sonography shows an early arterial contrast enhancement without any significant wash-out.

With a very high sensitivity in diagnosing malignant lesions and an increasing availability of B-mode and CEUS ultrasound should be used as screening methods in patients with CAH. But there are further data needed on the incidence and prevalence of adrenal masses, especially myelolipomas. In addition, careful follow-up of suspected myelolipomas is needed as it is yet unclear whether there is an increased risk for malignant transformation of this entity.

Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.

Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.