Myelolipomas have been reported in patients with
congenital adrenal hyperplasia (CAH).
ACTH excess, as seen with non-adherence to
glucocorticoid therapy, may be responsible for
tumor development. We report a case of a 51-year-old man with classic
salt-wasting CAH managed on
prednisone 7.5 mg daily and
fludrocortisone who presented with chronic
back pain and was found to have giant bilateral retroperitoneal masses. On computed tomography (CT) imaging, the masses were heterogeneous, but contained predominantly low-density fat attenuation. The
tumors were resected due to concern for
malignancy and mass symptoms. Pathologic examination identified both retroperitoneal masses as
myelolipomas. The left
tumor was 34×20×13 cm and weighed 4.7 kg and the right
tumor was 20 cm in the largest dimension. Adrenal tissue was present in the specimen. The patient reported long-term compliance with
glucocorticoid treatment. However, no biochemical monitoring of
ACTH levels had occurred. Therefore, it is unclear if
ACTH excess contributed to the development of these large
tumors in this patient. It was presumed that both adrenal glands were inadvertently removed during surgery and the patient was treated with physiologic replacement doses of
hydrocortisone and
fludrocortisone postoperatively. In this case, the bilateral
adrenalectomy was inadvertent. However,
adrenalectomy can be considered as a treatment option in patients with classical CAH under certain circumstances to avoid complications of
glucocorticoid excess.
LEARNING POINTS:
Myelolipomas should be considered in the differential diagnosis of adrenal or retroperitoneal masses in patients with CAH.On CT imaging,
myelolipomas are seen as heterogeneous masses with low-density mature fat interspersed with more dense myeloid tissue.Myelolipomas are usually unilateral and measure <4 cm; however, very large and bilateral
tumors have been reported.Treatment of CAH typically involves using supraphysiologic doses of
glucocorticoid to suppress adrenal
hyperandrogenism. Bilateral
adrenalectomy is an alternative treatment option in patients with CAH.There is an association between
ACTH excess and increased incidence of adrenal
myelolipoma but the direct causal link remains to be established.